Linked Data
ClinVar Variation Id:
132723
dbSNP Id:
rs147067171
ExAC:
9:98209591 T / C
gnomAD v2:
9-98209591-T-C
gnomAD v3:
9-95447309-T-C
gnomAD v4:
9-95447309-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95447309T>C , CM000671.2:g.95447309T>C | GRCh38 |
| NC_000009.11:g.98209591T>C , CM000671.1:g.98209591T>C | GRCh37 |
| NC_000009.10:g.97249412T>C | NCBI36 |
| NG_007664.1:g.74657A>G , LRG_515:g.74657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.3749A>G | ENSP00000518556.1:p.Tyr1250Cys | |
| ENST00000437951.6:c.3944A>G MANE Plus Clinical | ENSP00000389744.2:p.Tyr1315Cys | |
| ENST00000687744.1:n.2144A>G | ||
| ENST00000690194.1:c.*2255A>G | ENSP00000509379.1:n.*2255A>G | |
| ENST00000692981.1:c.3494A>G | ENSP00000510238.1:p.Tyr1165Cys | |
| ENST00000693534.1:n.1294A>G | ||
| ENST00000331920.11:c.3947A>G MANE Select | ENSP00000332353.6:p.Tyr1316Cys | |
| ENST00000331920.10:c.3947A>G | ENSP00000332353.6:p.Tyr1316Cys | |
| ENST00000375274.6:c.3944A>G | ENSP00000364423.2:p.Tyr1315Cys | |
| ENST00000375290.6:c.7253A>G | ENSP00000364439.2:n.7253A>G | |
| ENST00000418258.5:c.3494A>G | ENSP00000396135.1:p.Tyr1165Cys | |
| ENST00000421141.5:c.3494A>G | ENSP00000399981.1:p.Tyr1165Cys | |
| ENST00000429896.6:c.3494A>G | ENSP00000414823.2:p.Tyr1165Cys | |
| ENST00000430669.6:c.3749A>G | ENSP00000410287.2:p.Tyr1250Cys | |
| ENST00000437951.5:c.3749A>G | ENSP00000389744.1:p.Tyr1250Cys | |
| ENST00000546744.5:n.1011A>G | ||
| NM_000264.3:c.3947A>G , LRG_515t1:c.3947A>G | NP_000255.2:p.Tyr1316Cys | |
| NM_001083602.1:c.3749A>G , LRG_515t2:c.3749A>G | NP_001077071.1:p.Tyr1250Cys | |
| NM_001083603.1:c.3944A>G | NP_001077072.1:p.Tyr1315Cys | |
| NM_001083604.1:c.3494A>G | NP_001077073.1:p.Tyr1165Cys | |
| NM_001083605.1:c.3494A>G | NP_001077074.1:p.Tyr1165Cys | |
| NM_001083606.1:c.3494A>G | NP_001077075.1:p.Tyr1165Cys | |
| NM_001083607.1:c.3494A>G | NP_001077076.1:p.Tyr1165Cys | |
| XM_005252102.2:c.3494A>G | XP_005252159.1:p.Tyr1165Cys | |
| XM_011518868.1:c.3791A>G | XP_011517170.1:p.Tyr1264Cys | |
| XM_011518869.1:c.3494A>G | XP_011517171.1:p.Tyr1165Cys | |
| XM_011518870.1:c.3494A>G | XP_011517172.1:p.Tyr1165Cys | |
| XM_011518871.1:c.3494A>G | XP_011517173.1:p.Tyr1165Cys | |
| XM_011518872.1:c.3494A>G | XP_011517174.1:p.Tyr1165Cys | |
| XM_011518873.1:c.3107A>G | XP_011517175.1:p.Tyr1036Cys | |
| NM_000264.4:c.3947A>G | NP_000255.2:p.Tyr1316Cys | |
| NM_001083602.2:c.3749A>G | NP_001077071.1:p.Tyr1250Cys | |
| NM_001083603.2:c.3944A>G | NP_001077072.1:p.Tyr1315Cys | |
| NM_001083604.2:c.3494A>G | NP_001077073.1:p.Tyr1165Cys | |
| NM_001083605.2:c.3494A>G | NP_001077074.1:p.Tyr1165Cys | |
| NM_001083606.2:c.3494A>G | NP_001077075.1:p.Tyr1165Cys | |
| NM_001083607.2:c.3494A>G | NP_001077076.1:p.Tyr1165Cys | |
| NM_001354918.1:c.3791A>G | NP_001341847.1:p.Tyr1264Cys | |
| NR_149061.1:n.3969A>G | ||
| NM_000264.5:c.3947A>G MANE Select | NP_000255.2:p.Tyr1316Cys | |
| NM_001083606.3:c.3494A>G | NP_001077075.1:p.Tyr1165Cys | |
| NM_001354918.2:c.3791A>G | NP_001341847.1:p.Tyr1264Cys | |
| NR_149061.2:n.4686A>G | ||
| NM_001083602.3:c.3749A>G | NP_001077071.1:p.Tyr1250Cys | |
| NM_001083603.3:c.3944A>G MANE Plus Clinical | NP_001077072.1:p.Tyr1315Cys | |
| NM_001083604.3:c.3494A>G | NP_001077073.1:p.Tyr1165Cys | |
| NM_001083605.3:c.3494A>G | NP_001077074.1:p.Tyr1165Cys | |
| NM_001083607.3:c.3494A>G | NP_001077076.1:p.Tyr1165Cys |