dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23893573A>T , CM000663.2:g.23893573A>T | GRCh38 |
| NC_000001.10:g.24220063A>T , CM000663.1:g.24220063A>T | GRCh37 |
| NC_000001.9:g.24092650A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374472.5:c.-45-17911T>A MANE Select | ENSP00000363596.4:n.-45-17911T>A | |
| ENST00000374472.4:c.-45-17911T>A | ENSP00000363596.4:n.-45-17911T>A | |
| NM_001841.2:c.-45-17911T>A | NP_001832.1:n.-45-17911T>A | |
| NM_001841.3:c.-45-17911T>A MANE Select | NP_001832.1:n.-45-17911T>A |