dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186673297A>T , CM000663.2:g.186673297A>T | GRCh38 |
| NC_000001.10:g.186642429A>T , CM000663.1:g.186642429A>T | GRCh37 |
| NC_000001.9:g.184909052A>T | NCBI36 |
| NG_028206.2:g.12131T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.*1056T>A MANE Select | ENSP00000356438.5:n.*1056T>A | |
| ENST00000680451.1:c.*1056T>A | ENSP00000506242.1:n.*1056T>A | |
| ENST00000681605.1:c.*2543T>A | ENSP00000504900.1:n.*2543T>A | |
| ENST00000367468.9:c.*1056T>A | ENSP00000356438.5:n.*1056T>A | |
| ENST00000490885.6:n.3286T>A | ||
| NM_000963.3:c.*1056T>A | NP_000954.1:n.*1056T>A | |
| NM_000963.4:c.*1056T>A MANE Select | NP_000954.1:n.*1056T>A |