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