Linked Data
ClinVar Variation Id:
217555
dbSNP Id:
rs771170000
ExAC:
17:19263670 T / C
gnomAD v2:
17-19263670-T-C
gnomAD v3:
17-19360357-T-C
gnomAD v4:
17-19360357-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19360357T>C , CM000679.2:g.19360357T>C | GRCh38 |
| NC_000017.10:g.19263670T>C , CM000679.1:g.19263670T>C | GRCh37 |
| NC_000017.9:g.19204263T>C | NCBI36 |
| NG_031885.1:g.22826A>G | |
| NG_031885.2:g.22837A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261499.11:c.95A>G MANE Select | ENSP00000261499.4:p.Tyr32Cys | |
| ENST00000261499.10:c.95A>G | ENSP00000261499.4:p.Tyr32Cys | |
| ENST00000477478.7:c.-266A>G | ENSP00000460939.2:n.-266A>G | |
| ENST00000574508.7:c.-266A>G | ENSP00000462565.2:n.-266A>G | |
| ENST00000575478.7:c.-266A>G | ENSP00000458525.3:n.-266A>G | |
| ENST00000582857.2:c.-266A>G | ENSP00000463165.2:n.-266A>G | |
| ENST00000642870.2:c.-266A>G | ENSP00000496409.2:n.-266A>G | |
| ENST00000647056.1:c.95A>G | ENSP00000496502.1:p.Tyr32Cys | |
| ENST00000647252.1:c.95A>G | ENSP00000495045.1:p.Tyr32Cys | |
| ENST00000663089.1:c.95A>G | ENSP00000499469.1:p.Tyr32Cys | |
| ENST00000671102.1:c.95A>G | ENSP00000499690.1:p.Tyr32Cys | |
| ENST00000674596.1:c.-43-2406A>G | ENSP00000501877.1:n.-43-2406A>G | |
| ENST00000675510.1:c.95A>G | ENSP00000501817.1:p.Tyr32Cys | |
| ENST00000261499.8:c.95A>G | ENSP00000261499.4:p.Tyr32Cys | |
| ENST00000268841.10:c.95A>G | ENSP00000268841.6:p.Tyr32Cys | |
| ENST00000395615.5:c.95A>G | ENSP00000378977.1:p.Tyr32Cys | |
| ENST00000395616.7:c.95A>G | ENSP00000378978.3:p.Tyr32Cys | |
| ENST00000440841.1:c.68A>G | ENSP00000410835.1:p.Tyr23Cys | |
| ENST00000461069.6:c.95A>G | ENSP00000433359.2:p.Tyr32Cys | |
| ENST00000477478.6:c.22A>G | ENSP00000460939.1:p.Thr8Ala | |
| ENST00000477683.5:n.239A>G | ||
| ENST00000487415.6:c.22A>G | ENSP00000463255.1:p.Thr8Ala | |
| ENST00000574508.6:c.22A>G | ENSP00000462565.1:p.Thr8Ala | |
| ENST00000575403.5:c.22A>G | ENSP00000459857.1:p.Thr8Ala | |
| ENST00000575478.5:c.22A>G | ENSP00000458525.1:p.Thr8Ala | |
| ENST00000582857.1:c.145A>G | ENSP00000463165.1:p.Thr49Ala | |
| NM_001243473.1:c.154A>G | NP_001230402.1:p.Thr52Ala | |
| NM_001243475.1:c.22A>G | NP_001230404.1:p.Thr8Ala | |
| NM_015681.3:c.95A>G | NP_056496.1:p.Tyr32Cys | |
| XM_005256605.2:c.95A>G | XP_005256662.1:p.Tyr32Cys | |
| XM_005256607.2:c.95A>G | XP_005256664.1:p.Tyr32Cys | |
| XM_005256608.2:c.95A>G | XP_005256665.1:p.Tyr32Cys | |
| XM_005256609.1:c.95A>G | XP_005256666.1:p.Tyr32Cys | |
| XM_005256610.1:c.95A>G | XP_005256667.1:p.Tyr32Cys | |
| XM_011523793.1:c.95A>G | XP_011522095.1:p.Tyr32Cys | |
| XM_011523794.1:c.95A>G | XP_011522096.1:p.Tyr32Cys | |
| NM_001243473.2:c.154A>G | NP_001230402.1:p.Thr52Ala | |
| NM_001243475.2:c.22A>G | NP_001230404.1:p.Thr8Ala | |
| NM_001321214.1:c.95A>G | NP_001308143.1:p.Tyr32Cys | |
| NM_001321215.1:c.95A>G | NP_001308144.1:p.Tyr32Cys | |
| NM_001321216.1:c.95A>G | NP_001308145.1:p.Tyr32Cys | |
| NM_001321217.1:c.95A>G | NP_001308146.1:p.Tyr32Cys | |
| NM_001321218.1:c.95A>G | NP_001308147.1:p.Tyr32Cys | |
| NM_001321219.1:c.95A>G | NP_001308148.1:p.Tyr32Cys | |
| NM_001330149.1:c.95A>G | NP_001317078.1:p.Tyr32Cys | |
| NM_015681.4:c.95A>G | NP_056496.1:p.Tyr32Cys | |
| XM_005256610.2:c.95A>G | XP_005256667.1:p.Tyr32Cys | |
| NM_001321214.2:c.95A>G | NP_001308143.1:p.Tyr32Cys | |
| NM_001321215.2:c.95A>G | NP_001308144.1:p.Tyr32Cys | |
| NM_001321216.2:c.95A>G | NP_001308145.1:p.Tyr32Cys | |
| NM_001321217.2:c.95A>G | NP_001308146.1:p.Tyr32Cys | |
| NM_001321218.2:c.95A>G | NP_001308147.1:p.Tyr32Cys | |
| NM_001321219.2:c.95A>G | NP_001308148.1:p.Tyr32Cys | |
| NM_001368769.2:c.-266A>G | NP_001355698.1:n.-266A>G | |
| NM_015681.5:c.95A>G | NP_056496.1:p.Tyr32Cys | |
| NM_001321215.3:c.95A>G | NP_001308144.1:p.Tyr32Cys | |
| NM_001330149.2:c.95A>G | NP_001317078.1:p.Tyr32Cys | |
| NM_015681.6:c.95A>G MANE Select | NP_056496.1:p.Tyr32Cys |