Linked Data
dbSNP Id:
rs1970396890
gnomAD v4:
17-58273613-C-T
MyVariant Identifiers:
chr17:g.56350974C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273613C>T , CM000679.2:g.58273613C>T | GRCh38 |
| NC_000017.10:g.56350974C>T , CM000679.1:g.56350974C>T | GRCh37 |
| NC_000017.9:g.53705973C>T | NCBI36 |
| NG_009629.1:g.12323G>A , LRG_84:g.12323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.755G>A | ||
| ENST00000699291.1:c.547G>A | ENSP00000514272.1:p.Val183Ile | |
| ENST00000699292.1:n.462G>A | ||
| ENST00000225275.4:c.1422G>A MANE Select | ENSP00000225275.3:p.Lys474= | |
| ENST00000225275.3:c.1422G>A | ENSP00000225275.3:p.Lys474= | |
| NM_000250.1:c.1422G>A , LRG_84t1:c.1422G>A | NP_000241.1:p.Lys474= | |
| XM_011524821.1:c.1608G>A | XP_011523123.1:p.Lys536= | |
| XM_011524822.1:c.1137G>A | XP_011523124.1:p.Lys379= | |
| XM_011524823.1:c.1447G>A | XP_011523125.1:p.Val483Ile | |
| NM_000250.2:c.1422G>A MANE Select | NP_000241.1:p.Lys474= |