Linked Data
dbSNP Id:
rs12534093
gnomAD v2:
7-23502974-T-A
gnomAD v3:
7-23463355-T-A
gnomAD v4:
7-23463355-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23463355T>A , CM000669.2:g.23463355T>A | GRCh38 |
| NC_000007.13:g.23502974T>A , CM000669.1:g.23502974T>A | GRCh37 |
| NC_000007.12:g.23469499T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258729.8:c.236+5127A>T MANE Select | ENSP00000258729.3:n.236+5127A>T | |
| ENST00000258729.7:c.236+5127A>T | ENSP00000258729.3:n.236+5127A>T | |
| ENST00000421467.6:c.236+5127A>T | ENSP00000395936.1:n.236+5127A>T | |
| ENST00000468005.1:n.486+5127A>T | ||
| ENST00000468263.5:n.155+4417A>T | ||
| ENST00000476938.5:n.142+5127A>T | ||
| ENST00000491719.5:n.328+5127A>T | ||
| NM_006547.2:c.236+5127A>T | NP_006538.2:n.236+5127A>T | |
| XM_011515089.1:c.236+5127A>T | XP_011513391.1:n.236+5127A>T | |
| XM_011515091.1:c.-120+5127A>T | XP_011513393.1:n.-120+5127A>T | |
| XM_011515092.1:c.-59+5127A>T | XP_011513394.1:n.-59+5127A>T | |
| XM_011515089.2:c.236+5127A>T | XP_011513391.1:n.236+5127A>T | |
| XM_011515091.2:c.-120+5127A>T | XP_011513393.1:n.-120+5127A>T | |
| XM_011515092.2:c.-59+5127A>T | XP_011513394.1:n.-59+5127A>T | |
| NM_006547.3:c.236+5127A>T MANE Select | NP_006538.2:n.236+5127A>T |