Linked Data
ClinVar Variation Id:
643944
ClinVar RCV Id:
RCV000797762
dbSNP Id:
rs1236513030
gnomAD v2:
14-45628420-G-A
gnomAD v4:
14-45159217-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45159217G>A , CM000676.2:g.45159217G>A | GRCh38 |
| NC_000014.8:g.45628420G>A , CM000676.1:g.45628420G>A | GRCh37 |
| NC_000014.7:g.44698170G>A | NCBI36 |
| NG_007417.1:g.28285G>A , LRG_502:g.28285G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556036.6:c.1518G>A | ENSP00000450596.1:p.Met506Ile | |
| ENST00000556250.6:c.1518G>A | ENSP00000452033.2:p.Met506Ile | |
| ENST00000696641.1:c.1359G>A | ENSP00000512774.1:p.Met453Ile | |
| ENST00000696642.1:c.*329G>A | ENSP00000512775.1:n.*329G>A | |
| ENST00000696643.1:c.1518G>A | ENSP00000512776.1:p.Met506Ile | |
| ENST00000696646.1:c.*329G>A | ENSP00000512777.1:n.*329G>A | |
| ENST00000696647.1:c.1518G>A | ENSP00000512778.1:p.Met506Ile | |
| ENST00000696648.1:c.1518G>A | ENSP00000512779.1:p.Met506Ile | |
| ENST00000696649.1:c.1518G>A | ENSP00000512780.1:p.Met506Ile | |
| ENST00000696650.1:n.1466G>A | ||
| ENST00000696658.1:n.2068G>A | ||
| ENST00000696662.1:c.1440G>A | ENSP00000512788.1:p.Met480Ile | |
| ENST00000696663.1:c.335G>A | ||
| ENST00000696664.1:c.335G>A | ||
| ENST00000696675.1:c.1518G>A | ENSP00000512799.1:p.Met506Ile | |
| ENST00000696680.1:c.1386G>A | ENSP00000512803.1:p.Met462Ile | |
| ENST00000696681.1:c.*329G>A | ENSP00000512804.1:n.*329G>A | |
| ENST00000696682.1:c.1518G>A | ENSP00000512805.1:p.Met506Ile | |
| ENST00000696683.1:c.335G>A | ||
| ENST00000696684.1:c.335G>A | ||
| ENST00000696685.1:c.335G>A | ||
| ENST00000267430.10:c.1518G>A MANE Select | ENSP00000267430.5:p.Met506Ile | |
| ENST00000267430.9:c.1518G>A | ENSP00000267430.5:p.Met506Ile | |
| ENST00000542564.6:c.1440G>A | ENSP00000442493.2:p.Met480Ile | |
| ENST00000556036.5:c.1518G>A | ENSP00000450596.1:p.Met506Ile | |
| ENST00000556250.5:c.273G>A | ENSP00000452033.1:p.Met91Ile | |
| NM_001308133.1:c.1440G>A | NP_001295062.1:p.Met480Ile | |
| NM_001308134.1:c.1518G>A | NP_001295063.1:p.Met506Ile | |
| NM_020937.2:c.1518G>A , LRG_502t1:c.1518G>A | NP_065988.1:p.Met506Ile | |
| NM_020937.3:c.1518G>A | NP_065988.1:p.Met506Ile | |
| XM_011537034.1:c.1518G>A | XP_011535336.1:p.Met506Ile | |
| XM_011537035.1:c.1440G>A | XP_011535337.1:p.Met480Ile | |
| XM_011537036.1:c.1518G>A | XP_011535338.1:p.Met506Ile | |
| XM_011537034.2:c.1518G>A | XP_011535336.1:p.Met506Ile | |
| XM_011537035.3:c.1440G>A | XP_011535337.1:p.Met480Ile | |
| XM_017021523.1:c.1518G>A | XP_016877012.1:p.Met506Ile | |
| XM_017021524.2:c.555G>A | XP_016877013.1:p.Met185Ile | |
| XM_017021525.2:c.333G>A | XP_016877014.1:p.Met111Ile | |
| XM_017021526.2:c.333G>A | XP_016877015.1:p.Met111Ile | |
| XM_017021527.1:c.333G>A | XP_016877016.1:p.Met111Ile | |
| XR_001750470.1:n.1610G>A | ||
| XR_001750471.2:n.1610G>A | ||
| XR_001750472.1:n.1610G>A | ||
| NM_020937.4:c.1518G>A MANE Select | NP_065988.1:p.Met506Ile | |
| NM_001308133.2:c.1440G>A | NP_001295062.1:p.Met480Ile | |
| NM_001308134.2:c.1518G>A | NP_001295063.1:p.Met506Ile |