Linked Data
ClinVar Variation Id:
1940641
ClinVar RCV Id:
RCV002658509
dbSNP Id:
rs748953990
ExAC:
2:136555600 G / A
gnomAD v2:
2-136555600-G-A
gnomAD v4:
2-135798030-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135798030G>A , CM000664.2:g.135798030G>A | GRCh38 |
| NC_000002.11:g.136555600G>A , CM000664.1:g.136555600G>A | GRCh37 |
| NC_000002.10:g.136272070G>A | NCBI36 |
| NG_008104.2:g.62140C>T , LRG_338:g.62140C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.4975C>T MANE Select | ENSP00000264162.2:p.Arg1659Trp | |
| ENST00000264162.6:c.4975C>T | ENSP00000264162.2:p.Arg1659Trp | |
| ENST00000452974.1:c.3068C>T | ENSP00000391231.1:n.3068C>T | |
| NM_002299.2:c.4975C>T , LRG_338t1:c.4975C>T | NP_002290.2:p.Arg1659Trp | |
| NM_002299.3:c.4975C>T | NP_002290.2:p.Arg1659Trp | |
| XM_017004088.2:c.4975C>T | XP_016859577.1:p.Arg1659Trp | |
| NM_002299.4:c.4975C>T MANE Select | NP_002290.2:p.Arg1659Trp |