Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060508T>G , CM000664.2:g.219060508T>G | GRCh38 |
| NC_000002.11:g.219925230T>G , CM000664.1:g.219925230T>G | GRCh37 |
| NC_000002.10:g.219633474T>G | NCBI36 |
| NG_016741.1:g.5009A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-41A>C MANE Select | ENSP00000295731.5:n.-41A>C | |
| NM_002181.3:c.-41A>C | NP_002172.2:n.-41A>C | |
| NM_002181.4:c.-41A>C MANE Select | NP_002172.2:n.-41A>C |