Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169128983T>A , CM000664.2:g.169128983T>A | GRCh38 |
| NC_000002.11:g.169985493T>A , CM000664.1:g.169985493T>A | GRCh37 |
| NC_000002.10:g.169693739T>A | NCBI36 |
| NG_012634.1:g.238630A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.13800+30A>T MANE Select | ENSP00000496870.1:n.13800+30A>T | |
| ENST00000649153.1:c.4609+30A>T | ||
| ENST00000650252.1:c.2791+30A>T | ENSP00000496887.1:n.2791+30A>T | |
| ENST00000263816.7:c.13800+30A>T | ENSP00000263816.3:n.13800+30A>T | |
| NM_004525.2:c.13800+30A>T | NP_004516.2:n.13800+30A>T | |
| XM_011511183.1:c.13671+30A>T | XP_011509485.1:n.13671+30A>T | |
| XM_011511184.1:c.11511+30A>T | XP_011509486.1:n.11511+30A>T | |
| NM_004525.3:c.13800+30A>T MANE Select | NP_004516.2:n.13800+30A>T | |
| XM_011511183.3:c.13671+30A>T | XP_011509485.1:n.13671+30A>T | |
| XM_011511184.2:c.11511+30A>T | XP_011509486.1:n.11511+30A>T |