Linked Data
dbSNP Id:
rs916532616
gnomAD v2:
19-18898767-C-T
gnomAD v3:
19-18787958-C-T
gnomAD v4:
19-18787958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787958C>T , CM000681.2:g.18787958C>T | GRCh38 |
| NC_000019.9:g.18898767C>T , CM000681.1:g.18898767C>T | GRCh37 |
| NC_000019.8:g.18759767C>T | NCBI36 |
| NG_007070.1:g.8348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.975+254G>A MANE Select | ENSP00000222271.2:n.975+254G>A | |
| ENST00000222271.6:c.975+254G>A | ENSP00000222271.2:n.975+254G>A | |
| ENST00000425807.1:c.816+254G>A | ENSP00000403792.1:n.816+254G>A | |
| ENST00000542601.6:c.876+254G>A | ENSP00000439156.2:n.876+254G>A | |
| NM_000095.2:c.975+254G>A | NP_000086.2:n.975+254G>A | |
| NM_000095.3:c.975+254G>A MANE Select | NP_000086.2:n.975+254G>A |