Linked Data
dbSNP Id:
rs894706259
gnomAD v2:
7-100218331-T-C
gnomAD v3:
7-100620708-T-C
gnomAD v4:
7-100620708-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100620708T>C , CM000669.2:g.100620708T>C | GRCh38 |
| NC_000007.13:g.100218331T>C , CM000669.1:g.100218331T>C | GRCh37 |
| NC_000007.12:g.100056267T>C | NCBI36 |
| NG_007989.1:g.25843A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.*149A>G MANE Select | ENSP00000223051.3:n.*149A>G | |
| ENST00000223051.7:c.*149A>G | ENSP00000223051.3:n.*149A>G | |
| ENST00000431692.5:c.*1230A>G | ENSP00000413905.1:n.*1230A>G | |
| ENST00000462090.5:n.1591A>G | ||
| ENST00000462107.1:c.*149A>G | ENSP00000420525.1:n.*149A>G | |
| ENST00000465294.5:n.2475A>G | ||
| ENST00000476304.5:n.2176A>G | ||
| ENST00000490084.5:c.1908A>G | ||
| NM_001206855.1:c.*149A>G | NP_001193784.1:n.*149A>G | |
| NM_003227.3:c.*149A>G | NP_003218.2:n.*149A>G | |
| XM_005250553.3:c.*149A>G | XP_005250610.1:n.*149A>G | |
| NM_001206855.2:c.*149A>G | NP_001193784.1:n.*149A>G | |
| XM_005250553.4:c.*149A>G | XP_005250610.1:n.*149A>G | |
| XM_017012573.1:c.*149A>G | XP_016868062.1:n.*149A>G | |
| NM_003227.4:c.*149A>G MANE Select | NP_003218.2:n.*149A>G | |
| NM_001206855.3:c.*149A>G | NP_001193784.1:n.*149A>G |