Linked Data
dbSNP Id:
rs767700866
ExAC:
17:56351067 C / G
gnomAD v2:
17-56351067-C-G
gnomAD v4:
17-58273706-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273706C>G , CM000679.2:g.58273706C>G | GRCh38 |
| NC_000017.10:g.56351067C>G , CM000679.1:g.56351067C>G | GRCh37 |
| NC_000017.9:g.53706066C>G | NCBI36 |
| NG_009629.1:g.12230G>C , LRG_84:g.12230G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.699-37G>C | ||
| ENST00000699291.1:c.491-37G>C | ENSP00000514272.1:n.491-37G>C | |
| ENST00000699292.1:n.369G>C | ||
| ENST00000225275.4:c.1366-37G>C MANE Select | ENSP00000225275.3:n.1366-37G>C | |
| ENST00000225275.3:c.1366-37G>C | ENSP00000225275.3:n.1366-37G>C | |
| NM_000250.1:c.1366-37G>C , LRG_84t1:c.1366-37G>C | NP_000241.1:n.1366-37G>C | |
| XM_011524821.1:c.1552-37G>C | XP_011523123.1:n.1552-37G>C | |
| XM_011524822.1:c.1081-37G>C | XP_011523124.1:n.1081-37G>C | |
| XM_011524823.1:c.1391-37G>C | XP_011523125.1:n.1391-37G>C | |
| NM_000250.2:c.1366-37G>C MANE Select | NP_000241.1:n.1366-37G>C |