Linked Data
dbSNP Id:
rs200099243
ExAC:
17:56350869 C / T
gnomAD v2:
17-56350869-C-T
gnomAD v3:
17-58273508-C-T
gnomAD v4:
17-58273508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273508C>T , CM000679.2:g.58273508C>T | GRCh38 |
| NC_000017.10:g.56350869C>T , CM000679.1:g.56350869C>T | GRCh37 |
| NC_000017.9:g.53705868C>T | NCBI36 |
| NG_009629.1:g.12428G>A , LRG_84:g.12428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.860G>A | ||
| ENST00000699291.1:c.652G>A | ENSP00000514272.1:n.652G>A | |
| ENST00000699292.1:n.567G>A | ||
| ENST00000225275.4:c.1527G>A MANE Select | ENSP00000225275.3:p.Met509Ile | |
| ENST00000225275.3:c.1527G>A | ENSP00000225275.3:p.Met509Ile | |
| NM_000250.1:c.1527G>A , LRG_84t1:c.1527G>A | NP_000241.1:p.Met509Ile | |
| XM_011524821.1:c.1713G>A | XP_011523123.1:p.Met571Ile | |
| XM_011524822.1:c.1242G>A | XP_011523124.1:p.Met414Ile | |
| XM_011524823.1:c.*76G>A | XP_011523125.1:n.*76G>A | |
| NM_000250.2:c.1527G>A MANE Select | NP_000241.1:p.Met509Ile |