Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151100945C>A , CM000667.2:g.151100945C>A | GRCh38 |
| NC_000005.9:g.150480506C>A , CM000667.1:g.150480506C>A | GRCh37 |
| NC_000005.8:g.150460699C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354546.10:c.*503G>T MANE Select | ENSP00000346550.5:n.*503G>T | |
| ENST00000522664.5:c.218G>T | ||
| NM_001155.4:c.*503G>T | NP_001146.2:n.*503G>T | |
| NM_001193544.1:c.*503G>T | NP_001180473.1:n.*503G>T | |
| NM_001363114.1:c.*503G>T | NP_001350043.1:n.*503G>T | |
| NM_001155.5:c.*503G>T MANE Select | NP_001146.2:n.*503G>T | |
| NM_001193544.2:c.*503G>T | NP_001180473.1:n.*503G>T | |
| NM_001363114.2:c.*503G>T | NP_001350043.1:n.*503G>T |