Linked Data
dbSNP Id:
rs111845187
ExAC:
17:38028497 C / G
gnomAD v2:
17-38028497-C-G
gnomAD v3:
17-39872244-C-G
gnomAD v4:
17-39872244-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872244C>G , CM000679.2:g.39872244C>G | GRCh38 |
| NC_000017.10:g.38028497C>G , CM000679.1:g.38028497C>G | GRCh37 |
| NC_000017.9:g.35282023C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.407-26C>G MANE Select | ENSP00000335384.5:n.407-26C>G | |
| ENST00000348931.8:c.407-26C>G | ENSP00000335384.5:n.407-26C>G | |
| ENST00000377940.3:c.341-26C>G | ENSP00000367174.3:n.341-26C>G | |
| ENST00000583811.5:c.53-26C>G | ENSP00000462463.1:n.53-26C>G | |
| ENST00000584588.5:c.406+619C>G | ENSP00000462067.1:n.406+619C>G | |
| NM_198844.2:c.341-26C>G | NP_942141.2:n.341-26C>G | |
| NM_199321.2:c.407-26C>G | NP_955353.1:n.407-26C>G | |
| XM_011524298.1:c.407-26C>G | XP_011522600.1:n.407-26C>G | |
| XR_002957959.1:n.598-26C>G | ||
| NM_198844.3:c.341-26C>G | NP_942141.2:n.341-26C>G | |
| NM_199321.3:c.407-26C>G MANE Select | NP_955353.1:n.407-26C>G |