Linked Data
dbSNP Id:
rs138170955
ExAC:
17:56350962 C / G
gnomAD v2:
17-56350962-C-G
gnomAD v4:
17-58273601-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273601C>G , CM000679.2:g.58273601C>G | GRCh38 |
| NC_000017.10:g.56350962C>G , CM000679.1:g.56350962C>G | GRCh37 |
| NC_000017.9:g.53705961C>G | NCBI36 |
| NG_009629.1:g.12335G>C , LRG_84:g.12335G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.767G>C | ||
| ENST00000699291.1:c.559G>C | ENSP00000514272.1:p.Val187Leu | |
| ENST00000699292.1:n.474G>C | ||
| ENST00000225275.4:c.1434G>C MANE Select | ENSP00000225275.3:p.Thr478= | |
| ENST00000225275.3:c.1434G>C | ENSP00000225275.3:p.Thr478= | |
| NM_000250.1:c.1434G>C , LRG_84t1:c.1434G>C | NP_000241.1:p.Thr478= | |
| XM_011524821.1:c.1620G>C | XP_011523123.1:p.Thr540= | |
| XM_011524822.1:c.1149G>C | XP_011523124.1:p.Thr383= | |
| XM_011524823.1:c.1459G>C | XP_011523125.1:p.Val487Leu | |
| NM_000250.2:c.1434G>C MANE Select | NP_000241.1:p.Thr478= |