Linked Data
ClinVar Variation Id:
143344
ClinVar RCV Id:
RCV000169942
RCV000225614
RCV001087462
RCV000724404
RCV002321616
RCV002505117
RCV004544306
dbSNP Id:
rs267608572
ExAC:
X:153296141 C / T
gnomAD v2:
X-153296141-C-T
gnomAD v3:
X-154030690-C-T
gnomAD v4:
X-154030690-C-T
ERepo:
CA199319/MONDO:0010726/016
PubMed:
PMID:19189931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030690C>T , CM000685.2:g.154030690C>T | GRCh38 |
| NC_000023.10:g.153296141C>T , CM000685.1:g.153296141C>T | GRCh37 |
| NC_000023.9:g.152949335C>T | NCBI36 |
| NG_007107.2:g.111438G>A | |
| NG_007107.3:g.111414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1138G>A MANE Plus Clinical | ENSP00000301948.6:p.Val380Met | |
| ENST00000453960.7:c.1174G>A MANE Select | ENSP00000395535.2:p.Val392Met | |
| ENST00000303391.10:c.1138G>A | ENSP00000301948.6:p.Val380Met | |
| ENST00000407218.5:c.*510G>A | ENSP00000384865.2:n.*510G>A | |
| ENST00000453960.6:c.1174G>A | ENSP00000395535.2:p.Val392Met | |
| ENST00000619732.4:c.1138G>A | ENSP00000480973.1:p.Val380Met | |
| ENST00000628176.2:c.*510G>A | ENSP00000486978.1:n.*510G>A | |
| NM_001110792.1:c.1174G>A | NP_001104262.1:p.Val392Met | |
| NM_001316337.1:c.859G>A | NP_001303266.1:p.Val287Met | |
| NM_004992.3:c.1138G>A | NP_004983.1:p.Val380Met | |
| XM_005274681.3:c.1138G>A | XP_005274738.1:p.Val380Met | |
| XM_005274682.3:c.859G>A | XP_005274739.1:p.Val287Met | |
| XM_005274683.3:c.859G>A | XP_005274740.1:p.Val287Met | |
| XM_006724819.2:c.469G>A | XP_006724882.1:p.Val157Met | |
| XM_011531166.1:c.859G>A | XP_011529468.1:p.Val287Met | |
| XM_006724819.3:c.469G>A | XP_006724882.1:p.Val157Met | |
| XM_011531166.2:c.859G>A | XP_011529468.1:p.Val287Met | |
| XM_024452383.1:c.859G>A | XP_024308151.1:p.Val287Met | |
| XM_024452384.1:c.859G>A | XP_024308152.1:p.Val287Met | |
| NM_001110792.2:c.1174G>A MANE Select | NP_001104262.1:p.Val392Met | |
| NM_001316337.2:c.859G>A | NP_001303266.1:p.Val287Met | |
| NM_001369391.2:c.859G>A | NP_001356320.1:p.Val287Met | |
| NM_001369392.2:c.859G>A | NP_001356321.1:p.Val287Met | |
| NM_001369393.2:c.859G>A | NP_001356322.1:p.Val287Met | |
| NM_001369394.1:c.859G>A | NP_001356323.1:p.Val287Met | |
| NM_001369394.2:c.859G>A | NP_001356323.1:p.Val287Met | |
| NM_001386137.1:c.469G>A | NP_001373066.1:p.Val157Met | |
| NM_001386138.1:c.469G>A | NP_001373067.1:p.Val157Met | |
| NM_001386139.1:c.469G>A | NP_001373068.1:p.Val157Met | |
| NM_004992.4:c.1138G>A MANE Plus Clinical | NP_004983.1:p.Val380Met |