Linked Data
ClinVar Variation Id:
282366
dbSNP Id:
rs782007408
ExAC:
X:153594965 C / T
gnomAD v2:
X-153594965-C-T
gnomAD v3:
X-154366597-C-T
gnomAD v4:
X-154366597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154366597C>T , CM000685.2:g.154366597C>T | GRCh38 |
| NC_000023.10:g.153594965C>T , CM000685.1:g.153594965C>T | GRCh37 |
| NC_000023.9:g.153248159C>T | NCBI36 |
| NG_011506.1:g.13042G>A | |
| NG_011506.2:g.13042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.1030G>A | ENSP00000353467.4:p.Val344Ile | |
| ENST00000369850.10:c.1030G>A MANE Select | ENSP00000358866.3:p.Val344Ile | |
| ENST00000369856.8:c.949G>A | ENSP00000358872.4:p.Val317Ile | |
| ENST00000422373.6:c.1030G>A | ENSP00000416926.2:p.Val344Ile | |
| ENST00000610817.5:c.1030G>A | ENSP00000480593.2:p.Val344Ile | |
| ENST00000676696.1:c.1030G>A | ENSP00000503392.1:p.Val344Ile | |
| ENST00000344736.8:c.1030G>A | ENSP00000358863.3:p.Val344Ile | |
| ENST00000360319.8:c.1030G>A | ENSP00000353467.4:p.Val344Ile | |
| ENST00000369850.7:c.1030G>A | ENSP00000358866.3:p.Val344Ile | |
| ENST00000369856.7:c.949G>A | ENSP00000358872.4:p.Val317Ile | |
| ENST00000420627.5:c.988G>A | ENSP00000408921.1:p.Val330Ile | |
| ENST00000422373.5:c.1030G>A | ENSP00000416926.1:p.Val344Ile | |
| ENST00000610817.4:c.949G>A | ENSP00000480593.1:p.Val317Ile | |
| NM_001110556.1:c.1030G>A | NP_001104026.1:p.Val344Ile | |
| NM_001456.3:c.1030G>A | NP_001447.2:p.Val344Ile | |
| XM_011531127.1:c.1030G>A | XP_011529429.1:p.Val344Ile | |
| XM_011531128.1:c.1030G>A | XP_011529430.1:p.Val344Ile | |
| XM_011531129.1:c.1030G>A | XP_011529431.1:p.Val344Ile | |
| XM_011531130.1:c.1030G>A | XP_011529432.1:p.Val344Ile | |
| XM_011531131.1:c.1030G>A | XP_011529433.1:p.Val344Ile | |
| NM_001110556.2:c.1030G>A MANE Select | NP_001104026.1:p.Val344Ile | |
| NM_001456.4:c.1030G>A | NP_001447.2:p.Val344Ile |