Linked Data
dbSNP Id:
rs113988120
gnomAD v2:
2-71447675-T-A
gnomAD v3:
2-71220545-T-A
gnomAD v4:
2-71220545-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71220545T>A , CM000664.2:g.71220545T>A | GRCh38 |
| NC_000002.11:g.71447675T>A , CM000664.1:g.71447675T>A | GRCh37 |
| NC_000002.10:g.71301183T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244221.9:c.-12+6383A>T MANE Select | ENSP00000244221.8:n.-12+6383A>T | |
| ENST00000244221.8:c.-12+6383A>T | ENSP00000244221.8:n.-12+6383A>T | |
| NM_020459.1:c.-12+6383A>T MANE Select | NP_065192.1:n.-12+6383A>T | |
| XM_005264310.2:c.-12+5664A>T | XP_005264367.1:n.-12+5664A>T | |
| XM_005264311.3:c.-12+5810A>T | XP_005264368.1:n.-12+5810A>T | |
| XM_011532842.1:c.52+5806A>T | XP_011531144.1:n.52+5806A>T | |
| XM_011532843.1:c.-12+6418A>T | XP_011531145.1:n.-12+6418A>T | |
| XM_005264310.4:c.-12+5664A>T | XP_005264367.1:n.-12+5664A>T | |
| XM_005264311.4:c.-12+5810A>T | XP_005264368.1:n.-12+5810A>T | |
| XM_011532842.3:c.52+5806A>T | XP_011531144.1:n.52+5806A>T | |
| XM_011532843.2:c.-12+6418A>T | XP_011531145.1:n.-12+6418A>T |