dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88276856T>A , CM000669.2:g.88276856T>A | GRCh38 |
| NC_000007.13:g.87906171T>A , CM000669.1:g.87906171T>A | GRCh37 |
| NC_000007.12:g.87744107T>A | NCBI36 |
| NG_028313.1:g.35058A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380079.9:c.*2542A>T MANE Select | ENSP00000369419.4:n.*2542A>T | |
| ENST00000380079.8:c.*2542A>T | ENSP00000369419.4:n.*2542A>T | |
| NM_001205315.1:c.*2542A>T | NP_001192244.1:n.*2542A>T | |
| NM_001205316.1:c.*2542A>T | NP_001192245.1:n.*2542A>T | |
| NM_024636.3:c.*2542A>T | NP_078912.2:n.*2542A>T | |
| NM_001205315.2:c.*2542A>T | NP_001192244.1:n.*2542A>T | |
| NM_001205316.2:c.*2542A>T | NP_001192245.1:n.*2542A>T | |
| NM_024636.4:c.*2542A>T MANE Select | NP_078912.2:n.*2542A>T |