Linked Data
ClinVar Variation Id:
290174
dbSNP Id:
rs886044370
gnomAD v2:
7-16131375-G-A
gnomAD v4:
7-16091750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16091750G>A , CM000669.2:g.16091750G>A | GRCh38 |
| NC_000007.13:g.16131375G>A , CM000669.1:g.16131375G>A | GRCh37 |
| NC_000007.12:g.16097900G>A | NCBI36 |
| NG_032690.1:g.334573C>T | |
| NG_032690.2:g.334573C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.1301C>T MANE Select | ENSP00000385478.2:p.Ala434Val | |
| ENST00000675257.1:c.893C>T | ENSP00000501664.1:p.Ala298Val | |
| ENST00000676325.1:c.998C>T | ENSP00000502074.1:p.Ala333Val | |
| ENST00000399310.3:c.1151C>T | ENSP00000382249.3:p.Ala384Val | |
| ENST00000407010.6:c.1301C>T | ENSP00000385478.2:p.Ala434Val | |
| NM_001101417.3:c.1151C>T | NP_001094887.1:p.Ala384Val | |
| NM_001101426.3:c.1301C>T | NP_001094896.1:p.Ala434Val | |
| XM_006715770.2:c.1052C>T | XP_006715833.1:p.Ala351Val | |
| XM_011515498.1:c.1251+124316C>T | XP_011513800.1:n.1251+124316C>T | |
| XM_011515500.1:c.1196C>T | XP_011513802.1:p.Ala399Val | |
| XM_011515502.1:c.998C>T | XP_011513804.1:p.Ala333Val | |
| XM_011515503.1:c.998C>T | XP_011513805.1:p.Ala333Val | |
| XM_011515504.1:c.998C>T | XP_011513806.1:p.Ala333Val | |
| XM_011515505.1:c.998C>T | XP_011513807.1:p.Ala333Val | |
| XM_011515506.1:c.998C>T | XP_011513808.1:p.Ala333Val | |
| XM_011515507.1:c.998C>T | XP_011513809.1:p.Ala333Val | |
| XM_011515508.1:c.998C>T | XP_011513810.1:p.Ala333Val | |
| XM_011515509.1:c.998C>T | XP_011513811.1:p.Ala333Val | |
| XM_006715770.3:c.1052C>T | XP_006715833.1:p.Ala351Val | |
| XM_011515500.2:c.1196C>T | XP_011513802.1:p.Ala399Val | |
| XM_011515508.2:c.998C>T | XP_011513810.1:p.Ala333Val | |
| XM_011515509.2:c.998C>T | XP_011513811.1:p.Ala333Val | |
| XM_017012577.1:c.665C>T | XP_016868066.1:p.Ala222Val | |
| XM_017012578.1:c.665C>T | XP_016868067.1:p.Ala222Val | |
| XM_024446909.1:c.998C>T | XP_024302677.1:p.Ala333Val | |
| XM_024446910.1:c.998C>T | XP_024302678.1:p.Ala333Val | |
| XM_024446911.1:c.893C>T | XP_024302679.1:p.Ala298Val | |
| XR_001744868.1:n.1309C>T | ||
| NM_001101426.4:c.1301C>T MANE Select | NP_001094896.1:p.Ala434Val | |
| NM_001101417.4:c.1151C>T | NP_001094887.1:p.Ala384Val | |
| NM_001368197.1:c.1196C>T | NP_001355126.1:p.Ala399Val | |
| NR_160656.1:n.1366C>T |