Linked Data
ClinVar Variation Id:
3034740
ClinVar RCV Id:
RCV003907109
dbSNP Id:
rs200255695
ExAC:
11:48158689 G / A
gnomAD v2:
11-48158689-G-A
gnomAD v3:
11-48137137-G-A
gnomAD v4:
11-48137137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48137137G>A , CM000673.2:g.48137137G>A | GRCh38 |
| NC_000011.9:g.48158689G>A , CM000673.1:g.48158689G>A | GRCh37 |
| NC_000011.8:g.48115265G>A | NCBI36 |
| NG_012209.1:g.161580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.2350G>A | ENSP00000514003.1:p.Ala784Thr | |
| ENST00000418331.7:c.2008G>A MANE Select | ENSP00000400010.2:p.Ala670Thr | |
| ENST00000418331.6:c.2008G>A | ENSP00000400010.2:p.Ala670Thr | |
| ENST00000613246.4:c.2008G>A | ENSP00000477933.1:p.Ala670Thr | |
| ENST00000615445.4:c.2008G>A | ENSP00000479342.1:p.Ala670Thr | |
| NM_002843.3:c.2008G>A | NP_002834.3:p.Ala670Thr | |
| XM_011520249.1:c.2041G>A | XP_011518551.1:p.Ala681Thr | |
| XR_930883.1:n.2358G>A | ||
| XM_017018083.1:c.2086G>A | XP_016873572.1:p.Ala696Thr | |
| XM_017018084.1:c.2029G>A | XP_016873573.1:p.Ala677Thr | |
| XM_017018085.1:c.1960G>A | XP_016873574.1:p.Ala654Thr | |
| XR_930883.2:n.2417G>A | ||
| NM_002843.4:c.2008G>A MANE Select | NP_002834.3:p.Ala670Thr |