Linked Data
ClinVar Variation Id:
2174931
ClinVar RCV Id:
RCV002599030
dbSNP Id:
rs574694961
gnomAD v2:
3-183855780-G-A
gnomAD v3:
3-184137992-G-A
gnomAD v4:
3-184137992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137992G>A , CM000665.2:g.184137992G>A | GRCh38 |
| NC_000003.11:g.183855780G>A , CM000665.1:g.183855780G>A | GRCh37 |
| NC_000003.10:g.185338474G>A | NCBI36 |
| NG_015826.1:g.7971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.624G>A | ||
| ENST00000468748.7:n.584G>A | ||
| ENST00000484154.2:n.1222G>A | ||
| ENST00000491008.6:n.1349G>A | ||
| ENST00000492226.2:n.598G>A | ||
| ENST00000492773.6:c.333G>A | ||
| ENST00000647636.1:c.601G>A | ENSP00000497505.1:p.Val201Met | |
| ENST00000647909.1:c.625G>A | ENSP00000498164.1:p.Val209Met | |
| ENST00000648145.1:c.369G>A | ||
| ENST00000648189.1:c.351G>A | ||
| ENST00000648256.1:c.550G>A | ENSP00000497356.1:p.Val184Met | |
| ENST00000648314.1:c.601G>A | ENSP00000496920.1:p.Val201Met | |
| ENST00000648599.1:c.601G>A | ENSP00000497159.1:p.Val201Met | |
| ENST00000648630.1:c.595G>A | ENSP00000497887.1:p.Val199Met | |
| ENST00000648682.1:c.601G>A | ENSP00000498185.1:p.Val201Met | |
| ENST00000648882.1:c.*427G>A | ENSP00000497603.1:n.*427G>A | |
| ENST00000648890.1:c.601G>A | ENSP00000497503.1:p.Val201Met | |
| ENST00000648915.2:c.601G>A MANE Select | ENSP00000497160.1:p.Val201Met | |
| ENST00000649545.1:c.335G>A | ||
| ENST00000649688.1:c.601G>A | ENSP00000497097.1:p.Val201Met | |
| ENST00000649814.1:n.650G>A | ||
| ENST00000650270.1:c.468G>A | ||
| ENST00000273783.7:c.601G>A | ENSP00000273783.3:p.Val201Met | |
| ENST00000432982.5:c.245+1317G>A | ||
| ENST00000444495.1:c.601G>A | ENSP00000409142.1:p.Val201Met | |
| ENST00000468748.5:n.54G>A | ||
| ENST00000481054.5:n.602G>A | ||
| ENST00000491008.5:n.565G>A | ||
| ENST00000491144.5:n.1041G>A | ||
| ENST00000498831.1:n.556G>A | ||
| NM_003907.2:c.601G>A | NP_003898.2:p.Val201Met | |
| XR_924208.1:n.1552G>A | ||
| NM_003907.3:c.601G>A MANE Select | NP_003898.2:p.Val201Met | |
| XM_011513266.3:c.-301G>A | XP_011511568.1:n.-301G>A | |
| XR_001740352.2:n.964G>A | ||
| XR_001740353.2:n.964G>A | ||
| XR_924208.2:n.964G>A |