Linked Data
dbSNP Id:
rs10401969
gnomAD v2:
19-19407718-T-C
gnomAD v3:
19-19296909-T-C
gnomAD v4:
19-19296909-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19296909T>C , CM000681.2:g.19296909T>C | GRCh38 |
| NC_000019.9:g.19407718T>C , CM000681.1:g.19407718T>C | GRCh37 |
| NC_000019.8:g.19268718T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247001.10:c.1243+80A>G MANE Select | ENSP00000247001.3:n.1243+80A>G | |
| ENST00000247001.9:c.1243+80A>G | ENSP00000247001.3:n.1243+80A>G | |
| ENST00000587119.5:c.*945+80A>G | ENSP00000466188.1:n.*945+80A>G | |
| ENST00000588731.6:c.*770+80A>G | ENSP00000465413.2:n.*770+80A>G | |
| ENST00000589144.5:c.741+80A>G | ||
| ENST00000591007.6:n.547+80A>G | ||
| NM_172231.3:c.1243+80A>G | NP_757386.2:n.1243+80A>G | |
| XM_005260002.1:c.613+80A>G | XP_005260059.1:n.613+80A>G | |
| XM_011528155.1:c.613+80A>G | XP_011526457.1:n.613+80A>G | |
| XM_005260002.3:c.613+80A>G | XP_005260059.1:n.613+80A>G | |
| XM_011528155.2:c.613+80A>G | XP_011526457.1:n.613+80A>G | |
| XM_024451627.1:c.712+80A>G | XP_024307395.1:n.712+80A>G | |
| XM_024451628.1:c.613+80A>G | XP_024307396.1:n.613+80A>G | |
| NM_172231.4:c.1243+80A>G MANE Select | NP_757386.2:n.1243+80A>G |