dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218259499G>T , CM000664.2:g.218259499G>T | GRCh38 |
| NC_000002.11:g.219124222G>T , CM000664.1:g.219124222G>T | GRCh37 |
| NC_000002.10:g.218832467G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479077.5:c.-731G>T | ENSP00000430698.1:n.-731G>T | |
| XM_011510743.1:c.-1352G>T | XP_011509045.1:n.-1352G>T | |
| XM_011510744.1:c.-731G>T | XP_011509046.1:n.-731G>T | |
| NM_001321950.1:c.-731G>T | NP_001308879.1:n.-731G>T | |
| XM_017003467.1:c.-1469G>T | XP_016858956.1:n.-1469G>T | |
| XM_017003468.1:c.-2090G>T | XP_016858957.1:n.-2090G>T | |
| XM_017003469.1:c.-1582G>T | XP_016858958.1:n.-1582G>T | |
| NM_001321950.2:c.-731G>T | NP_001308879.1:n.-731G>T |