Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421461C>A , CM000671.2:g.101421461C>A | GRCh38 |
| NC_000009.11:g.104183743C>A , CM000671.1:g.104183743C>A | GRCh37 |
| NC_000009.10:g.103223564C>A | NCBI36 |
| NG_012387.1:g.19320G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.*348G>T MANE Select | ENSP00000497767.1:n.*348G>T | |
| ENST00000648064.1:c.*348G>T | ENSP00000497990.1:n.*348G>T | |
| ENST00000374855.8:c.*348G>T | ENSP00000363988.4:n.*348G>T | |
| NM_000035.3:c.*348G>T | NP_000026.2:n.*348G>T | |
| NM_000035.4:c.*348G>T MANE Select | NP_000026.2:n.*348G>T |