dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31279199A>T , CM000684.2:g.31279199A>T | GRCh38 |
| NC_000022.10:g.31675185A>T , CM000684.1:g.31675185A>T | GRCh37 |
| NC_000022.9:g.30005185A>T | NCBI36 |
| NG_029895.1:g.71936A>T | |
| NG_029895.2:g.71936A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331728.9:c.*758A>T MANE Select | ENSP00000332687.4:n.*758A>T | |
| ENST00000331728.8:c.*758A>T | ENSP00000332687.4:n.*758A>T | |
| ENST00000333611.8:c.*758A>T | ENSP00000330470.4:n.*758A>T | |
| NM_005569.3:c.*758A>T | NP_005560.1:n.*758A>T | |
| NM_016733.2:c.*758A>T | NP_057952.1:n.*758A>T | |
| NM_005569.4:c.*758A>T MANE Select | NP_005560.1:n.*758A>T | |
| NM_016733.3:c.*758A>T | NP_057952.1:n.*758A>T |