Linked Data
ClinVar Variation Id:
3018283
ClinVar RCV Id:
RCV003876946
dbSNP Id:
rs562655405
ExAC:
14:81528495 G / A
gnomAD v2:
14-81528495-G-A
gnomAD v3:
14-81062151-G-A
gnomAD v4:
14-81062151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81062151G>A , CM000676.2:g.81062151G>A | GRCh38 |
| NC_000014.8:g.81528495G>A , CM000676.1:g.81528495G>A | GRCh37 |
| NC_000014.7:g.80598248G>A | NCBI36 |
| NG_009206.1:g.111627G>A , LRG_523:g.111627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.174G>A MANE Select | ENSP00000298171.2:p.Lys58= | |
| ENST00000298171.6:c.174G>A | ENSP00000298171.2:p.Lys58= | |
| ENST00000342443.10:c.174G>A | ENSP00000340113.6:p.Lys58= | |
| ENST00000541158.6:c.174G>A | ENSP00000441235.2:p.Lys58= | |
| ENST00000553763.1:n.274G>A | ||
| ENST00000554263.5:c.174G>A | ENSP00000451202.1:p.Lys58= | |
| ENST00000554435.1:c.174G>A | ENSP00000450549.1:p.Lys58= | |
| ENST00000555326.5:c.174G>A | ENSP00000451092.1:p.Lys58= | |
| NM_000369.2:c.174G>A , LRG_523t1:c.174G>A | NP_000360.2:p.Lys58= | |
| NM_001018036.2:c.174G>A | NP_001018046.1:p.Lys58= | |
| NM_001142626.2:c.174G>A | NP_001136098.1:p.Lys58= | |
| XM_005268037.3:c.174G>A | XP_005268094.1:p.Lys58= | |
| XM_005268039.1:c.174G>A | XP_005268096.1:p.Lys58= | |
| XM_006720245.1:c.174G>A | XP_006720308.1:p.Lys58= | |
| XM_011537119.1:c.-155G>A | XP_011535421.1:n.-155G>A | |
| XR_245790.3:n.3676-8335C>T | ||
| XR_944075.1:n.2549-8335C>T | ||
| XR_944076.1:n.1442-8335C>T | ||
| XR_944077.1:n.2455-8335C>T | ||
| XR_944078.1:n.2455-8335C>T | ||
| XM_005268037.4:c.174G>A | XP_005268094.1:p.Lys58= | |
| XM_011537119.2:c.-155G>A | XP_011535421.1:n.-155G>A | |
| XR_001751018.2:n.1989-8335C>T | ||
| XR_001751019.2:n.1895-8335C>T | ||
| XR_001751020.2:n.886-8335C>T | ||
| XR_001751021.1:n.4437-8335C>T | ||
| XR_001751022.1:n.3334-8335C>T | ||
| XR_001751023.1:n.4476-8335C>T | ||
| XR_001751024.2:n.1989-8335C>T | ||
| XR_944075.3:n.2613-8335C>T | ||
| NM_000369.4:c.174G>A | NP_000360.2:p.Lys58= | |
| NM_001018036.3:c.174G>A | NP_001018046.1:p.Lys58= | |
| NM_001142626.3:c.174G>A | NP_001136098.1:p.Lys58= | |
| NM_000369.5:c.174G>A MANE Select | NP_000360.2:p.Lys58= |