dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109764009C>T , CM000671.2:g.109764009C>T | GRCh38 |
| NC_000009.11:g.112526289C>T , CM000671.1:g.112526289C>T | GRCh37 |
| NC_000009.10:g.111566110C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674068.1:c.-1-16479C>T | ENSP00000501308.1:n.-1-16479C>T | |
| ENST00000374531.6:c.6-16479C>T | ENSP00000363656.2:n.6-16479C>T | |
| NM_001037293.2:c.6-16479C>T | NP_001032370.1:n.6-16479C>T | |
| XM_017015385.1:c.245+1404G>A | XP_016870874.1:n.245+1404G>A | |
| NM_001037293.3:c.6-16479C>T | NP_001032370.1:n.6-16479C>T | |
| NR_171891.1:n.445+1404G>A |