Linked Data
dbSNP Id:
rs16941669
gnomAD v2:
12-112245637-T-G
gnomAD v3:
12-111807833-T-G
gnomAD v4:
12-111807833-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111807833T>G , CM000674.2:g.111807833T>G | GRCh38 |
| NC_000012.11:g.112245637T>G , CM000674.1:g.112245637T>G | GRCh37 |
| NC_000012.10:g.110730020T>G | NCBI36 |
| NG_012250.1:g.46292T>G | |
| NG_012250.2:g.45947T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261733.7:c.1522-1710T>G MANE Select | ENSP00000261733.2:n.1522-1710T>G | |
| ENST00000261733.6:c.1522-1710T>G | ENSP00000261733.2:n.1522-1710T>G | |
| ENST00000416293.7:c.1381-1710T>G | ENSP00000403349.3:n.1381-1710T>G | |
| ENST00000548536.1:c.*1398-1710T>G | ENSP00000448179.1:n.*1398-1710T>G | |
| ENST00000549106.1:c.453-1710T>G | ||
| NM_000690.3:c.1522-1710T>G | NP_000681.2:n.1522-1710T>G | |
| NM_001204889.1:c.1381-1710T>G | NP_001191818.1:n.1381-1710T>G | |
| NM_000690.4:c.1522-1710T>G MANE Select | NP_000681.2:n.1522-1710T>G | |
| NM_001204889.2:c.1381-1710T>G | NP_001191818.1:n.1381-1710T>G |