Linked Data
ClinVar Variation Id:
3628
dbSNP Id:
rs56378716
ExAC:
17:56356502 A / G
gnomAD v2:
17-56356502-A-G
gnomAD v3:
17-58279141-A-G
gnomAD v4:
17-58279141-A-G
PubMed:
PMID:9354683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58279141A>G , CM000679.2:g.58279141A>G | GRCh38 |
| NC_000017.10:g.56356502A>G , CM000679.1:g.56356502A>G | GRCh37 |
| NC_000017.9:g.53711501A>G | NCBI36 |
| NG_009629.1:g.6795T>C , LRG_84:g.6795T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578493.2:n.27T>C | ||
| ENST00000699291.1:c.38T>C | ENSP00000514272.1:p.Met13Thr | |
| ENST00000225275.4:c.752T>C MANE Select | ENSP00000225275.3:p.Met251Thr | |
| ENST00000225275.3:c.752T>C | ENSP00000225275.3:p.Met251Thr | |
| ENST00000581022.1:n.177T>C | ||
| NM_000250.1:c.752T>C , LRG_84t1:c.752T>C | NP_000241.1:p.Met251Thr | |
| XM_011524821.1:c.938T>C | XP_011523123.1:p.Met313Thr | |
| XM_011524822.1:c.467T>C | XP_011523124.1:p.Met156Thr | |
| XM_011524823.1:c.938T>C | XP_011523125.1:p.Met313Thr | |
| NM_000250.2:c.752T>C MANE Select | NP_000241.1:p.Met251Thr |