dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150249731A>C , CM000668.2:g.150249731A>C | GRCh38 |
| NC_000006.11:g.150570867A>C , CM000668.1:g.150570867A>C | GRCh37 |
| NC_000006.10:g.150612560A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361131.5:c.*911A>C MANE Select | ENSP00000355260.4:n.*911A>C | |
| ENST00000361131.4:c.*911A>C | ENSP00000355260.4:n.*911A>C | |
| NM_030949.2:c.*911A>C | NP_112211.1:n.*911A>C | |
| XM_005267152.3:c.*911A>C | XP_005267209.1:n.*911A>C | |
| XM_005267152.5:c.*911A>C | XP_005267209.1:n.*911A>C | |
| NM_030949.3:c.*911A>C MANE Select | NP_112211.1:n.*911A>C |