Linked Data
ClinVar Variation Id:
183989
dbSNP Id:
rs778014929
ExAC:
1:45798279 T / G
gnomAD v2:
1-45798279-T-G
gnomAD v3:
1-45332607-T-G
gnomAD v4:
1-45332607-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332607T>G , CM000663.2:g.45332607T>G | GRCh38 |
| NC_000001.10:g.45798279T>G , CM000663.1:g.45798279T>G | GRCh37 |
| NC_000001.9:g.45570866T>G | NCBI36 |
| NG_008189.1:g.12864A>C , LRG_220:g.12864A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.189A>C | ENSP00000410263.2:p.Thr63= | |
| ENST00000435155.2:c.606A>C | ENSP00000403655.2:p.Thr202= | |
| ENST00000467459.6:c.573A>C | ENSP00000435889.2:p.Thr191= | |
| ENST00000483127.2:c.591A>C | ENSP00000436469.2:p.Thr197= | |
| ENST00000485271.6:c.573A>C | ENSP00000431264.2:p.Thr191= | |
| ENST00000529892.6:c.615A>C | ENSP00000432528.2:p.Thr205= | |
| ENST00000533178.6:c.196A>C | ENSP00000436430.2:p.Ser66Arg | |
| ENST00000672314.2:c.573A>C | ENSP00000500828.2:p.Thr191= | |
| ENST00000674679.2:c.*485A>C | ENSP00000501623.2:n.*485A>C | |
| ENST00000710952.2:c.657A>C MANE Plus Clinical | ENSP00000518552.2:p.Thr219= | |
| ENST00000672818.3:c.648A>C | ENSP00000500891.1:p.Thr216= | |
| ENST00000450313.6:c.583A>C | ENSP00000408176.2:p.Ser195Arg | |
| ENST00000456914.7:c.573A>C MANE Select | ENSP00000407590.2:p.Thr191= | |
| ENST00000461495.6:c.*312A>C | ENSP00000437166.1:n.*312A>C | |
| ENST00000671856.1:n.519A>C | ||
| ENST00000671898.1:c.1161A>C | ENSP00000499896.1:p.Thr387= | |
| ENST00000672011.1:c.541A>C | ENSP00000500418.1:p.Ser181Arg | |
| ENST00000672314.1:c.573A>C | ENSP00000500828.1:p.Thr191= | |
| ENST00000672593.1:c.*461A>C | ENSP00000500455.1:n.*461A>C | |
| ENST00000672764.1:c.532A>C | ENSP00000500886.1:p.Ser178Arg | |
| ENST00000672818.2:c.648A>C | ENSP00000500891.1:p.Thr216= | |
| ENST00000673134.1:c.*270A>C | ENSP00000500526.1:n.*270A>C | |
| ENST00000674679.1:c.601A>C | ENSP00000501623.1:n.601A>C | |
| ENST00000354383.10:c.576A>C | ENSP00000346354.6:p.Thr192= | |
| ENST00000355498.6:c.573A>C | ENSP00000347685.2:p.Thr191= | |
| ENST00000372098.7:c.648A>C | ENSP00000361170.3:p.Thr216= | |
| ENST00000372104.5:c.573A>C | ENSP00000361176.1:p.Thr191= | |
| ENST00000372110.7:c.618A>C | ENSP00000361182.3:p.Thr206= | |
| ENST00000372115.7:c.615A>C | ENSP00000361187.3:p.Thr205= | |
| ENST00000412971.5:c.189A>C | ENSP00000410263.1:p.Thr63= | |
| ENST00000435155.1:c.606A>C | ENSP00000403655.1:p.Thr202= | |
| ENST00000448481.5:c.606A>C | ENSP00000409718.1:p.Thr202= | |
| ENST00000450313.5:c.657A>C | ENSP00000408176.1:p.Thr219= | |
| ENST00000456914.6:c.573A>C | ENSP00000407590.2:p.Thr191= | |
| ENST00000461495.5:c.*312A>C | ENSP00000437166.1:n.*312A>C | |
| ENST00000462388.5:n.264A>C | ||
| ENST00000467940.5:c.*496A>C | ENSP00000436478.1:n.*496A>C | |
| ENST00000470256.5:c.460A>C | ENSP00000434985.1:p.Ser154Arg | |
| ENST00000475516.5:c.*386A>C | ENSP00000433843.1:n.*386A>C | |
| ENST00000478796.5:n.560A>C | ||
| ENST00000479746.6:n.931A>C | ||
| ENST00000481571.5:c.*386A>C | ENSP00000436597.1:n.*386A>C | |
| ENST00000488731.6:c.187+156A>C | ENSP00000432330.1:n.187+156A>C | |
| ENST00000492494.5:n.970A>C | ||
| ENST00000525160.5:c.*224A>C | ENSP00000431568.1:n.*224A>C | |
| ENST00000528013.6:c.615A>C | ENSP00000433130.2:p.Thr205= | |
| ENST00000529984.5:c.187+156A>C | ENSP00000437093.1:n.187+156A>C | |
| ENST00000531105.5:c.115+1784A>C | ENSP00000431292.1:n.115+1784A>C | |
| ENST00000533178.5:c.202A>C | ENSP00000436430.1:p.Ser68Arg | |
| NM_001048171.1:c.615A>C | NP_001041636.1:p.Thr205= | |
| NM_001048172.1:c.576A>C | NP_001041637.1:p.Thr192= | |
| NM_001048173.1:c.573A>C | NP_001041638.1:p.Thr191= | |
| NM_001048174.1:c.573A>C | NP_001041639.1:p.Thr191= | |
| NM_001128425.1:c.657A>C , LRG_220t1:c.657A>C | NP_001121897.1:p.Thr219= | |
| NM_001293190.1:c.618A>C | NP_001280119.1:p.Thr206= | |
| NM_001293191.1:c.606A>C | NP_001280120.1:p.Thr202= | |
| NM_001293192.1:c.297A>C | NP_001280121.1:p.Thr99= | |
| NM_001293195.1:c.573A>C | NP_001280124.1:p.Thr191= | |
| NM_001293196.1:c.297A>C | NP_001280125.1:p.Thr99= | |
| NM_012222.2:c.648A>C | NP_036354.1:p.Thr216= | |
| XM_011541497.1:c.633A>C | XP_011539799.1:p.Thr211= | |
| XM_011541498.1:c.615A>C | XP_011539800.1:p.Thr205= | |
| XM_011541499.1:c.615A>C | XP_011539801.1:p.Thr205= | |
| XM_011541500.1:c.615A>C | XP_011539802.1:p.Thr205= | |
| XM_011541501.1:c.615A>C | XP_011539803.1:p.Thr205= | |
| XM_011541502.1:c.615A>C | XP_011539804.1:p.Thr205= | |
| XM_011541503.1:c.615A>C | XP_011539805.1:p.Thr205= | |
| XM_011541504.1:c.606A>C | XP_011539806.1:p.Thr202= | |
| XM_011541505.1:c.195A>C | XP_011539807.1:p.Thr65= | |
| XM_011541506.1:c.195A>C | XP_011539808.1:p.Thr65= | |
| XM_011541507.1:c.186A>C | XP_011539809.1:p.Thr62= | |
| XM_011541508.1:c.201A>C | XP_011539810.1:p.Thr67= | |
| XR_946658.1:n.704A>C | ||
| NM_001350650.1:c.228A>C | NP_001337579.1:p.Thr76= | |
| NM_001350651.1:c.228A>C | NP_001337580.1:p.Thr76= | |
| NR_146882.1:n.831A>C | ||
| NR_146883.1:n.645A>C | ||
| XM_011541497.3:c.633A>C | XP_011539799.1:p.Thr211= | |
| XM_011541500.3:c.615A>C | XP_011539802.1:p.Thr205= | |
| XM_011541501.2:c.615A>C | XP_011539803.1:p.Thr205= | |
| XM_011541502.2:c.615A>C | XP_011539804.1:p.Thr205= | |
| XM_011541503.2:c.615A>C | XP_011539805.1:p.Thr205= | |
| XM_011541504.2:c.606A>C | XP_011539806.1:p.Thr202= | |
| XM_011541505.2:c.195A>C | XP_011539807.1:p.Thr65= | |
| XM_011541506.2:c.195A>C | XP_011539808.1:p.Thr65= | |
| XM_017001331.1:c.615A>C | XP_016856820.1:p.Thr205= | |
| XM_017001332.1:c.615A>C | XP_016856821.1:p.Thr205= | |
| XM_017001333.1:c.615A>C | XP_016856822.1:p.Thr205= | |
| XM_017001334.1:c.576A>C | XP_016856823.1:p.Thr192= | |
| XM_017001335.1:c.297A>C | XP_016856824.1:p.Thr99= | |
| XM_017001336.1:c.228A>C | XP_016856825.1:p.Thr76= | |
| XM_017001337.1:c.228A>C | XP_016856826.1:p.Thr76= | |
| XM_024447244.1:c.228A>C | XP_024303012.1:p.Thr76= | |
| XM_024447245.1:c.228A>C | XP_024303013.1:p.Thr76= | |
| XM_024447248.1:c.186A>C | XP_024303016.1:p.Thr62= | |
| XM_024447249.1:c.57A>C | XP_024303017.1:p.Thr19= | |
| XM_024447250.1:c.57A>C | XP_024303018.1:p.Thr19= | |
| XM_024447251.1:c.57A>C | XP_024303019.1:p.Thr19= | |
| XR_001737190.1:n.618A>C | ||
| XR_001737192.1:n.430A>C | ||
| XR_002956643.1:n.610A>C | ||
| XR_002956644.1:n.1145A>C | ||
| XR_946658.2:n.718A>C | ||
| NM_001048171.2:c.573A>C | NP_001041636.2:p.Thr191= | |
| NM_001128425.2:c.657A>C MANE Plus Clinical | NP_001121897.1:p.Thr219= | |
| NM_001048172.2:c.576A>C | NP_001041637.1:p.Thr192= | |
| NM_001048173.2:c.573A>C | NP_001041638.1:p.Thr191= | |
| NM_001048174.2:c.573A>C MANE Select | NP_001041639.1:p.Thr191= | |
| NM_001293190.2:c.618A>C | NP_001280119.1:p.Thr206= | |
| NM_001293191.2:c.606A>C | NP_001280120.1:p.Thr202= | |
| NM_001293192.2:c.297A>C | NP_001280121.1:p.Thr99= | |
| NM_001293195.2:c.573A>C | NP_001280124.1:p.Thr191= | |
| NM_001293196.2:c.297A>C | NP_001280125.1:p.Thr99= | |
| NM_001350650.2:c.228A>C | NP_001337579.1:p.Thr76= | |
| NM_001350651.2:c.228A>C | NP_001337580.1:p.Thr76= | |
| NM_012222.3:c.648A>C | NP_036354.1:p.Thr216= | |
| NR_146882.2:n.801A>C | ||
| NR_146883.2:n.650A>C |