Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49828959C>A , CM000665.2:g.49828959C>A | GRCh38 |
| NC_000003.11:g.49866392C>A , CM000665.1:g.49866392C>A | GRCh37 |
| NC_000003.10:g.49841396C>A | NCBI36 |
| NG_046695.1:g.32601G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005879.3:c.*144G>T MANE Select | NP_005870.2:n.*144G>T |
| ENST00000331456.7:c.*144G>T MANE Select | ENSP00000328203.2:n.*144G>T |
| NM_005879.2:c.*144G>T | NP_005870.2:n.*144G>T |
| ENST00000331456.6:c.*144G>T | ENSP00000328203.2:n.*144G>T |
| ENST00000491060.1:n.708G>T | |
| XM_011533264.1:c.*144G>T | XP_011531566.1:n.*144G>T |
| XM_017005526.1:c.*144G>T | XP_016861015.1:n.*144G>T |
| XR_001739979.1:n.1758G>T |