Linked Data
ClinVar Variation Id:
2023620
ClinVar RCV Id:
RCV002858085
dbSNP Id:
rs752051144
ExAC:
1:6534617 C / T
gnomAD v2:
1-6534617-C-T
gnomAD v3:
1-6474557-C-T
gnomAD v4:
1-6474557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6474557C>T , CM000663.2:g.6474557C>T | GRCh38 |
| NC_000001.10:g.6534617C>T , CM000663.1:g.6534617C>T | GRCh37 |
| NC_000001.9:g.6457204C>T | NCBI36 |
| NG_007978.1:g.50453G>A , LRG_262:g.50453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.333G>A | ENSP00000344570.5:p.Lys111= | |
| ENST00000377728.8:c.333G>A MANE Select | ENSP00000366957.3:p.Lys111= | |
| ENST00000377740.5:c.333G>A | ENSP00000366969.4:p.Lys111= | |
| ENST00000377748.6:c.507G>A | ENSP00000366977.2:p.Lys169= | |
| ENST00000400913.6:c.333G>A | ENSP00000383704.1:p.Lys111= | |
| ENST00000400915.8:c.444G>A | ENSP00000383706.4:p.Lys148= | |
| ENST00000489097.6:n.809G>A | ||
| ENST00000535355.6:c.540G>A | ENSP00000441445.1:p.Lys180= | |
| ENST00000537245.6:c.444G>A | ENSP00000439625.2:p.Lys148= | |
| ENST00000673471.2:c.630G>A | ENSP00000500749.1:p.Lys210= | |
| ENST00000674790.1:c.*545G>A | ENSP00000502815.1:n.*545G>A | |
| ENST00000675123.1:c.333G>A | ENSP00000502132.1:p.Lys111= | |
| ENST00000675548.1:c.*161G>A | ENSP00000502684.1:n.*161G>A | |
| ENST00000675694.1:c.333G>A | ENSP00000501925.1:p.Lys111= | |
| ENST00000676255.1:c.295G>A | ENSP00000502459.1:n.295G>A | |
| ENST00000340850.9:c.333G>A | ENSP00000344570.5:p.Lys111= | |
| ENST00000377725.5:c.333G>A | ENSP00000366954.1:p.Lys111= | |
| ENST00000377728.7:c.333G>A | ENSP00000366957.3:p.Lys111= | |
| ENST00000377732.5:c.444G>A | ENSP00000366961.1:p.Lys148= | |
| ENST00000377740.4:c.564G>A | ENSP00000366969.3:p.Lys188= | |
| ENST00000377748.5:c.564G>A | ENSP00000366977.1:p.Lys188= | |
| ENST00000400913.5:c.333G>A | ENSP00000383704.1:p.Lys111= | |
| ENST00000400915.7:c.501G>A | ENSP00000383706.3:p.Lys167= | |
| ENST00000489097.5:n.809G>A | ||
| ENST00000535355.5:c.540G>A | ENSP00000441445.1:p.Lys180= | |
| ENST00000537245.5:c.570G>A | ENSP00000439625.1:p.Lys190= | |
| NM_001042663.1:c.501G>A | NP_001036128.1:p.Lys167= | |
| NM_001042664.1:c.333G>A | NP_001036129.1:p.Lys111= | |
| NM_001042665.1:c.333G>A | NP_001036130.1:p.Lys111= | |
| NM_001265592.1:c.570G>A | NP_001252521.1:p.Lys190= | |
| NM_001265593.1:c.540G>A | NP_001252522.1:p.Lys180= | |
| NM_001265594.1:c.333G>A | NP_001252523.1:p.Lys111= | |
| NM_020631.4:c.333G>A | NP_065682.2:p.Lys111= | |
| NM_198681.3:c.564G>A | NP_941374.2:p.Lys188= | |
| NM_001042663.2:c.501G>A | NP_001036128.1:p.Lys167= | |
| NM_001265594.2:c.333G>A | NP_001252523.1:p.Lys111= | |
| NM_020631.5:c.333G>A | NP_065682.2:p.Lys111= | |
| NM_001042663.3:c.444G>A | NP_001036128.2:p.Lys148= | |
| NM_001265592.2:c.444G>A | NP_001252521.2:p.Lys148= | |
| NM_020631.6:c.333G>A MANE Select | NP_065682.2:p.Lys111= | |
| NM_198681.4:c.333G>A | NP_941374.3:p.Lys111= |