Linked Data
dbSNP Id:
rs567328186
gnomAD v2:
6-32145355-G-T
gnomAD v3:
6-32177578-G-T
gnomAD v4:
6-32177578-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32177578G>T , CM000668.2:g.32177578G>T | GRCh38 |
| NC_000006.11:g.32145355G>T , CM000668.1:g.32145355G>T | GRCh37 |
| NC_000006.10:g.32253333G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336984.6:c.-10+423C>A | ENSP00000337463.6:n.-10+423C>A | |
| ENST00000395497.5:c.-44C>A | ENSP00000378875.1:n.-44C>A | |
| NM_032741.4:c.-10+423C>A | NP_116130.2:n.-10+423C>A | |
| XM_011514234.1:c.-44C>A | XP_011512536.1:n.-44C>A | |
| XM_005248806.2:c.-354C>A | XP_005248863.1:n.-354C>A | |
| NM_032741.5:c.-10+423C>A | NP_116130.2:n.-10+423C>A |