Linked Data
ClinVar Variation Id:
811090
dbSNP Id:
rs782174983
ExAC:
X:153761187 C / T
gnomAD v2:
X-153761187-C-T
gnomAD v3:
X-154532972-C-T
gnomAD v4:
X-154532972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532972C>T , CM000685.2:g.154532972C>T | GRCh38 |
| NC_000023.10:g.153761187C>T , CM000685.1:g.153761187C>T | GRCh37 |
| NC_000023.9:g.153414381C>T | NCBI36 |
| NG_009015.2:g.19601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1021G>A | ENSP00000377194.2:p.Val341Ile | |
| ENST00000439227.6:c.1024G>A | ENSP00000395599.2:p.Val342Ile | |
| ENST00000696420.1:c.1021G>A | ENSP00000512615.1:p.Val341Ile | |
| ENST00000696421.1:c.1021G>A | ENSP00000512616.1:p.Val341Ile | |
| ENST00000696422.1:c.884G>A | ||
| ENST00000696423.1:c.887G>A | ||
| ENST00000696424.1:c.873G>A | ENSP00000512619.1:n.873G>A | |
| ENST00000696425.1:c.865-170G>A | ENSP00000512620.1:n.865-170G>A | |
| ENST00000696426.1:c.*481G>A | ENSP00000512621.1:n.*481G>A | |
| ENST00000696427.1:c.1028G>A | ENSP00000512622.1:p.Arg343His | |
| ENST00000696428.1:c.*863G>A | ENSP00000512623.1:n.*863G>A | |
| ENST00000696429.1:c.1021G>A | ENSP00000512624.1:p.Val341Ile | |
| ENST00000696430.1:c.1021G>A | ENSP00000512625.1:p.Val341Ile | |
| ENST00000393562.10:c.1021G>A MANE Select | ENSP00000377192.3:p.Val341Ile | |
| ENST00000369620.6:c.1159G>A | ENSP00000358633.2:p.Val387Ile | |
| ENST00000393562.6:c.1111G>A | ENSP00000377192.2:p.Val371Ile | |
| ENST00000393564.6:c.1021G>A | ENSP00000377194.2:p.Val341Ile | |
| ENST00000490651.1:n.103G>A | ||
| ENST00000621232.4:c.1021G>A | ENSP00000483686.1:p.Val341Ile | |
| NM_000402.4:c.1111G>A | NP_000393.4:p.Val371Ile | |
| NM_001042351.2:c.1021G>A | NP_001035810.1:p.Val341Ile | |
| XM_005274657.2:c.1114G>A | XP_005274714.1:p.Val372Ile | |
| XM_005274658.2:c.1024G>A | XP_005274715.1:p.Val342Ile | |
| XM_011531132.1:c.958-170G>A | XP_011529434.1:n.958-170G>A | |
| NM_001360016.2:c.1021G>A MANE Select | NP_001346945.1:p.Val341Ile | |
| NM_001042351.3:c.1021G>A | NP_001035810.1:p.Val341Ile |