Linked Data
dbSNP Id:
rs1189058737
gnomAD v2:
12-1828546-G-T
gnomAD v3:
12-1719380-G-T
gnomAD v4:
12-1719380-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1719380G>T , CM000674.2:g.1719380G>T | GRCh38 |
| NC_000012.11:g.1828546G>T , CM000674.1:g.1828546G>T | GRCh37 |
| NC_000012.10:g.1698807G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.-87+28189G>T MANE Select | ENSP00000349616.4:n.-87+28189G>T | |
| ENST00000357103.4:c.-87+28189G>T | ENSP00000349616.4:n.-87+28189G>T | |
| ENST00000537545.1:n.144+30663G>T | ||
| ENST00000540974.1:n.149-11345G>T | ||
| NM_024551.2:c.-87+28189G>T | NP_078827.2:n.-87+28189G>T | |
| XM_005253789.1:c.-87+28167G>T | XP_005253846.1:n.-87+28167G>T | |
| XM_006719018.1:c.-87+16398G>T | XP_006719081.1:n.-87+16398G>T | |
| XM_011521024.1:c.-87+16398G>T | XP_011519326.1:n.-87+16398G>T | |
| XM_011521025.1:c.-87+28167G>T | XP_011519327.1:n.-87+28167G>T | |
| XM_005253789.2:c.-87+28167G>T | XP_005253846.1:n.-87+28167G>T | |
| XM_006719018.2:c.-87+16398G>T | XP_006719081.1:n.-87+16398G>T | |
| XM_011521024.2:c.-87+16398G>T | XP_011519326.1:n.-87+16398G>T | |
| NM_024551.3:c.-87+28189G>T MANE Select | NP_078827.2:n.-87+28189G>T | |
| NM_001375363.1:c.-87+28189G>T | NP_001362292.1:n.-87+28189G>T | |
| NM_001375364.1:c.-248-16699G>T | NP_001362293.1:n.-248-16699G>T | |
| NM_001375365.1:c.-87+28167G>T | NP_001362294.1:n.-87+28167G>T |