Linked Data
ClinVar Variation Id:
259874
dbSNP Id:
rs139797100
ExAC:
3:195595029 T / C
gnomAD v2:
3-195595029-T-C
gnomAD v3:
3-195868158-T-C
gnomAD v4:
3-195868158-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.195868158T>C , CM000665.2:g.195868158T>C | GRCh38 |
| NC_000003.11:g.195595029T>C , CM000665.1:g.195595029T>C | GRCh37 |
| NC_000003.10:g.197079426T>C | NCBI36 |
| NG_029779.1:g.45852A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672887.2:c.2140A>G MANE Select | ENSP00000499899.1:p.Ser714Gly | |
| ENST00000333602.14:c.2095A>G | ENSP00000329425.6:p.Ser699Gly | |
| ENST00000381916.7:c.2329A>G | ENSP00000371341.2:p.Ser777Gly | |
| ENST00000428187.7:c.2191A>G | ENSP00000392546.1:p.Ser731Gly | |
| ENST00000671753.1:c.2212A>G | ENSP00000499858.1:p.Ser738Gly | |
| ENST00000672024.1:c.2095A>G | ENSP00000500486.1:p.Ser699Gly | |
| ENST00000672548.1:c.625A>G | ENSP00000500238.1:p.Ser209Gly | |
| ENST00000672887.1:c.2140A>G | ENSP00000499899.1:p.Ser714Gly | |
| ENST00000673038.1:c.2191A>G | ENSP00000500452.1:p.Ser731Gly | |
| ENST00000673236.1:n.1533A>G | ||
| ENST00000673420.1:c.2095A>G | ENSP00000500887.1:p.Ser699Gly | |
| ENST00000673440.1:n.417A>G | ||
| ENST00000678220.1:c.2191A>G | ENSP00000503221.1:p.Ser731Gly | |
| ENST00000333602.10:c.2095A>G | ENSP00000329425.6:p.Ser699Gly | |
| ENST00000381916.6:c.2329A>G | ENSP00000371341.2:p.Ser777Gly | |
| ENST00000416152.5:c.796A>G | ENSP00000398614.1:p.Ser266Gly | |
| ENST00000420716.2:n.1533A>G | ||
| ENST00000428187.5:c.2191A>G | ENSP00000392546.1:p.Ser731Gly | |
| ENST00000495247.5:n.417A>G | ||
| NM_001010938.1:c.2329A>G | NP_001010938.1:p.Ser777Gly | |
| NM_001308046.1:c.2191A>G | NP_001294975.1:p.Ser731Gly | |
| NM_005781.4:c.2095A>G | NP_005772.3:p.Ser699Gly | |
| XM_005269268.3:c.2329A>G | XP_005269325.1:p.Ser777Gly | |
| XM_005269270.3:c.2140A>G | XP_005269327.1:p.Ser714Gly | |
| XM_005269274.3:c.1423A>G | XP_005269331.1:p.Ser475Gly | |
| XM_005269275.3:c.1198A>G | XP_005269332.1:p.Ser400Gly | |
| XM_011512317.1:c.2632A>G | XP_011510619.1:p.Ser878Gly | |
| XM_011512318.1:c.2140A>G | XP_011510620.1:p.Ser714Gly | |
| XM_011512319.1:c.2095A>G | XP_011510621.1:p.Ser699Gly | |
| XM_011512320.1:c.2140A>G | XP_011510622.1:p.Ser714Gly | |
| XM_011512321.1:c.1912A>G | XP_011510623.1:p.Ser638Gly | |
| XM_011512317.3:c.2632A>G | XP_011510619.1:p.Ser878Gly | |
| XM_011512318.2:c.2236A>G | XP_011510620.2:p.Ser746Gly | |
| XM_011512321.2:c.1912A>G | XP_011510623.1:p.Ser638Gly | |
| XM_017005508.1:c.2191A>G | XP_016860997.1:p.Ser731Gly | |
| XM_017005509.1:c.2191A>G | XP_016860998.1:p.Ser731Gly | |
| XM_017005510.1:c.2236A>G | XP_016860999.1:p.Ser746Gly | |
| XM_024453291.1:c.2332A>G | XP_024309059.1:p.Ser778Gly | |
| XM_024453292.1:c.2191A>G | XP_024309060.1:p.Ser731Gly | |
| XM_024453293.1:c.2140A>G | XP_024309061.1:p.Ser714Gly | |
| XM_024453294.1:c.2140A>G | XP_024309062.1:p.Ser714Gly | |
| XM_024453295.1:c.2140A>G | XP_024309063.1:p.Ser714Gly | |
| NM_001010938.2:c.2212A>G | NP_001010938.2:p.Ser738Gly | |
| NM_001308046.2:c.2191A>G | NP_001294975.1:p.Ser731Gly | |
| NM_001382271.1:c.2191A>G | NP_001369200.1:p.Ser731Gly | |
| NM_001382272.1:c.2212A>G | NP_001369201.1:p.Ser738Gly | |
| NM_001382273.1:c.2140A>G MANE Select | NP_001369202.1:p.Ser714Gly | |
| NM_001382274.1:c.2140A>G | NP_001369203.1:p.Ser714Gly | |
| NM_001382275.1:c.2236A>G | NP_001369204.1:p.Ser746Gly | |
| NM_001386164.1:c.2095A>G | NP_001373093.1:p.Ser699Gly | |
| NM_001387707.1:c.2236A>G | NP_001374636.1:p.Ser746Gly | |
| NM_001387708.1:c.2167A>G | NP_001374637.1:p.Ser723Gly | |
| NM_001387709.1:c.2095A>G | NP_001374638.1:p.Ser699Gly | |
| NM_001387710.1:c.2095A>G | NP_001374639.1:p.Ser699Gly | |
| NM_001387711.1:c.2095A>G | NP_001374640.1:p.Ser699Gly | |
| NM_001387712.1:c.2095A>G | NP_001374641.1:p.Ser699Gly | |
| NM_001387713.1:c.2095A>G | NP_001374642.1:p.Ser699Gly | |
| NM_001387714.1:c.2095A>G | NP_001374643.1:p.Ser699Gly | |
| NM_001387715.1:c.2167A>G | NP_001374644.1:p.Ser723Gly | |
| NM_001387716.1:c.2140A>G | NP_001374645.1:p.Ser714Gly | |
| NM_001387717.1:c.2140A>G | NP_001374646.1:p.Ser714Gly | |
| NM_001387718.1:c.2140A>G | NP_001374647.1:p.Ser714Gly | |
| NM_001387719.1:c.2095A>G | NP_001374648.1:p.Ser699Gly | |
| NM_001387720.1:c.2095A>G | NP_001374649.1:p.Ser699Gly | |
| NM_001387721.1:c.2095A>G | NP_001374650.1:p.Ser699Gly | |
| NM_005781.5:c.2095A>G | NP_005772.3:p.Ser699Gly | |
| NR_170678.1:n.2387A>G | ||
| NR_170679.1:n.2691A>G | ||
| NR_170680.1:n.2398A>G | ||
| NR_170681.1:n.2353A>G | ||
| NR_170682.1:n.2665A>G | ||
| NR_170683.1:n.2620A>G | ||
| NR_170684.1:n.2033A>G | ||
| NR_170685.1:n.2536A>G | ||
| NR_170686.1:n.2404A>G | ||
| NR_170687.1:n.2379A>G | ||
| NR_170688.1:n.2620A>G | ||
| NR_170689.1:n.2134A>G | ||
| NR_170690.1:n.1945A>G | ||
| NR_170691.1:n.2292A>G | ||
| NR_170692.1:n.1902A>G |