Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.37812932G>A , CM000663.2:g.37812932G>A | GRCh38 |
| NC_000001.10:g.38278604G>A , CM000663.1:g.38278604G>A | GRCh37 |
| NC_000001.9:g.38051191G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373036.5:c.*2204C>T MANE Select | ENSP00000362127.3:n.*2204C>T | |
| ENST00000373036.4:c.*2204C>T | ENSP00000362127.3:n.*2204C>T | |
| NM_005955.2:c.*2204C>T | NP_005946.2:n.*2204C>T | |
| XM_011541491.1:c.*2204C>T | XP_011539793.1:n.*2204C>T | |
| XM_011541492.1:c.*2204C>T | XP_011539794.1:n.*2204C>T | |
| XM_011541494.1:c.*2204C>T | XP_011539796.1:n.*2204C>T | |
| XM_011541491.2:c.*2204C>T | XP_011539793.1:n.*2204C>T | |
| NM_005955.3:c.*2204C>T MANE Select | NP_005946.2:n.*2204C>T |