Linked Data
ClinVar Variation Id:
187458
ClinVar RCV Id:
RCV000167189
RCV000205365
RCV000236471
RCV001030212
RCV001358598
RCV003491915
RCV004539565
dbSNP Id:
rs576081828
ExAC:
16:23646594 C / T
gnomAD v2:
16-23646594-C-T
gnomAD v3:
16-23635273-C-T
gnomAD v4:
16-23635273-C-T
COSMIC:
COSM1286951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635273C>T , CM000678.2:g.23635273C>T | GRCh38 |
| NC_000016.9:g.23646594C>T , CM000678.1:g.23646594C>T | GRCh37 |
| NC_000016.8:g.23554095C>T | NCBI36 |
| NG_007406.1:g.11085G>A , LRG_308:g.11085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1279G>A | ENSP00000460666.3:p.Val427Met | |
| ENST00000565038.2:c.211+2577G>A | ENSP00000459882.2:n.211+2577G>A | |
| ENST00000566069.6:c.1273G>A | ENSP00000459237.2:p.Val425Met | |
| ENST00000697377.2:c.1279G>A | ENSP00000513286.2:p.Val427Met | |
| ENST00000697379.2:c.1279G>A | ENSP00000513287.2:p.Val427Met | |
| ENST00000561514.2:c.388G>A | ENSP00000460666.2:p.Val130Met | |
| ENST00000697374.1:c.388G>A | ENSP00000513284.1:p.Val130Met | |
| ENST00000697375.1:n.2620G>A | ||
| ENST00000697376.1:c.388G>A | ENSP00000513285.1:p.Val130Met | |
| ENST00000697377.1:c.388G>A | ENSP00000513286.1:p.Val130Met | |
| ENST00000697378.1:n.1793G>A | ||
| ENST00000697379.1:c.388G>A | ENSP00000513287.1:p.Val130Met | |
| ENST00000697382.1:c.388G>A | ENSP00000513288.1:p.Val130Met | |
| ENST00000697383.1:c.48+5837G>A | ENSP00000513289.1:n.48+5837G>A | |
| ENST00000697384.1:n.1427G>A | ||
| ENST00000261584.9:c.1273G>A MANE Select | ENSP00000261584.4:p.Val425Met | |
| ENST00000261584.8:c.1273G>A | ENSP00000261584.4:p.Val425Met | |
| ENST00000565038.1:c.86+2577G>A | ||
| ENST00000568219.5:c.388G>A | ENSP00000454703.2:p.Val130Met | |
| NM_024675.3:c.1273G>A , LRG_308t1:c.1273G>A | NP_078951.2:p.Val425Met | |
| XM_011545946.1:c.1279G>A | XP_011544248.1:p.Val427Met | |
| XM_011545947.1:c.1279G>A | XP_011544249.1:p.Val427Met | |
| XM_011545948.1:c.388G>A | XP_011544250.1:p.Val130Met | |
| XR_950851.1:n.2069G>A | ||
| XM_011545946.2:c.1279G>A | XP_011544248.1:p.Val427Met | |
| XM_011545947.2:c.1279G>A | XP_011544249.1:p.Val427Met | |
| XM_011545948.2:c.388G>A | XP_011544250.1:p.Val130Met | |
| XM_017023671.1:c.1279G>A | XP_016879160.1:p.Val427Met | |
| XM_017023672.2:c.1273G>A | XP_016879161.1:p.Val425Met | |
| XM_017023673.2:c.1273G>A | XP_016879162.1:p.Val425Met | |
| NM_024675.4:c.1273G>A MANE Select | NP_078951.2:p.Val425Met |