Linked Data
dbSNP Id:
rs752495829
ExAC:
1:150776655 T / C
gnomAD v2:
1-150776655-T-C
gnomAD v3:
1-150804179-T-C
gnomAD v4:
1-150804179-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804179T>C , CM000663.2:g.150804179T>C | GRCh38 |
| NC_000001.10:g.150776655T>C , CM000663.1:g.150776655T>C | GRCh37 |
| NC_000001.9:g.149043279T>C | NCBI36 |
| NG_011848.1:g.9158A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.460A>G MANE Select | ENSP00000271651.3:p.Lys154Glu | |
| ENST00000443913.2:c.637A>G | ENSP00000405083.2:p.Lys213Glu | |
| ENST00000480670.2:n.3529A>G | ||
| ENST00000676680.1:c.460A>G | ENSP00000503270.1:p.Lys154Glu | |
| ENST00000676716.1:c.337A>G | ENSP00000504737.1:p.Lys113Glu | |
| ENST00000676751.1:c.460A>G | ENSP00000502964.1:p.Lys154Glu | |
| ENST00000676824.1:c.460A>G | ENSP00000504176.1:p.Lys154Glu | |
| ENST00000676966.1:c.460A>G | ENSP00000503723.1:p.Lys154Glu | |
| ENST00000676970.1:c.460A>G | ENSP00000503832.1:p.Lys154Glu | |
| ENST00000677330.1:n.2286A>G | ||
| ENST00000677611.1:n.312A>G | ||
| ENST00000677887.1:c.502A>G | ENSP00000503876.1:p.Lys168Glu | |
| ENST00000678275.1:c.*352A>G | ENSP00000504796.1:n.*352A>G | |
| ENST00000678337.1:c.496A>G | ENSP00000504759.1:p.Lys166Glu | |
| ENST00000678725.1:n.1437A>G | ||
| ENST00000679090.1:n.1045A>G | ||
| ENST00000679148.1:n.3422A>G | ||
| ENST00000679171.1:n.2821A>G | ||
| ENST00000679260.1:c.399+1682A>G | ENSP00000504534.1:n.399+1682A>G | |
| ENST00000271651.7:c.460A>G | ENSP00000271651.3:p.Lys154Glu | |
| ENST00000443913.1:c.637A>G | ENSP00000405083.1:p.Lys213Glu | |
| ENST00000480670.1:n.300A>G | ||
| NM_000396.3:c.460A>G | NP_000387.1:p.Lys154Glu | |
| NM_000396.4:c.460A>G MANE Select | NP_000387.1:p.Lys154Glu |