Linked Data
ClinVar Variation Id:
188965
ClinVar RCV Id:
RCV000169340
dbSNP Id:
rs786204591
gnomAD v2:
16-8891740-A-G
gnomAD v4:
16-8797883-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797883A>G , CM000678.2:g.8797883A>G | GRCh38 |
| NC_000016.9:g.8891740A>G , CM000678.1:g.8891740A>G | GRCh37 |
| NC_000016.8:g.8799241A>G | NCBI36 |
| NG_009209.1:g.5071A>G | |
| NG_033146.1:g.4766T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682008.1:c.1A>G | ENSP00000507849.1:p.Met1Val | |
| ENST00000682393.1:c.1A>G | ENSP00000506774.1:p.Met1Val | |
| ENST00000683094.1:c.1A>G | ENSP00000508230.1:p.Met1Val | |
| ENST00000683274.1:c.1A>G | ENSP00000507262.1:p.Met1Val | |
| ENST00000683435.1:c.1A>G | ENSP00000508092.1:p.Met1Val | |
| ENST00000268261.9:c.1A>G MANE Select | ENSP00000268261.4:p.Met1Val | |
| ENST00000268261.8:c.1A>G | ENSP00000268261.4:p.Met1Val | |
| ENST00000562318.5:c.1A>G | ENSP00000454395.1:p.Met1Val | |
| ENST00000562448.1:n.42A>G | ||
| ENST00000564030.5:n.63A>G | ||
| ENST00000565221.5:c.1A>G | ENSP00000457932.1:p.Met1Val | |
| ENST00000565896.5:c.1A>G | ENSP00000456024.1:p.Met1Val | |
| ENST00000566196.5:n.45A>G | ||
| ENST00000566540.5:c.1A>G | ENSP00000454284.1:p.Met1Val | |
| ENST00000566604.5:c.1A>G | ENSP00000456774.1:p.Met1Val | |
| ENST00000566983.5:c.-15-3916A>G | ENSP00000457956.1:n.-15-3916A>G | |
| ENST00000568602.5:c.1A>G | ENSP00000455066.1:p.Met1Val | |
| ENST00000569958.5:c.1A>G | ENSP00000456302.1:p.Met1Val | |
| ENST00000570076.5:c.1A>G | ENSP00000456961.1:p.Met1Val | |
| ENST00000570134.5:c.1A>G | ENSP00000456275.1:p.Met1Val | |
| NM_000303.2:c.1A>G | NP_000294.1:p.Met1Val | |
| XM_005255372.3:c.1A>G | XP_005255429.1:p.Met1Val | |
| XM_005255373.3:c.-172A>G | XP_005255430.1:n.-172A>G | |
| XM_005255374.3:c.-172A>G | XP_005255431.1:n.-172A>G | |
| XM_011522538.1:c.1A>G | XP_011520840.1:p.Met1Val | |
| XM_005255374.4:c.-172A>G | XP_005255431.1:n.-172A>G | |
| NM_000303.3:c.1A>G MANE Select | NP_000294.1:p.Met1Val |