Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927566C>A , CM000663.2:g.149927566C>A | GRCh38 |
| NC_000001.10:g.149899458C>A , CM000663.1:g.149899458C>A | GRCh37 |
| NC_000001.9:g.148166082C>A | NCBI36 |
| NG_032777.1:g.5687G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+160G>T MANE Select | ENSP00000271628.8:n.34+160G>T | |
| ENST00000271628.8:c.34+160G>T | ENSP00000271628.8:n.34+160G>T | |
| ENST00000457312.1:c.-230G>T | ENSP00000391114.1:n.-230G>T | |
| NM_005850.4:c.34+160G>T | NP_005841.1:n.34+160G>T | |
| NM_005850.5:c.34+160G>T MANE Select | NP_005841.1:n.34+160G>T |