Linked Data
ClinVar Variation Id:
2255117
ClinVar RCV Id:
RCV004114376
dbSNP Id:
rs990629198
gnomAD v2:
18-60985562-G-T
gnomAD v3:
18-63318329-G-T
gnomAD v4:
18-63318329-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63318329G>T , CM000680.2:g.63318329G>T | GRCh38 |
| NC_000018.9:g.60985562G>T , CM000680.1:g.60985562G>T | GRCh37 |
| NC_000018.8:g.59136542G>T | NCBI36 |
| NG_009361.1:g.6052C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333681.5:c.338C>A MANE Select | ENSP00000329623.3:p.Ala113Asp | |
| ENST00000677227.1:c.338C>A | ENSP00000504566.1:p.Ala113Asp | |
| ENST00000678134.1:c.338C>A | ENSP00000503628.1:p.Ala113Asp | |
| ENST00000678349.1:c.338C>A | ENSP00000504190.1:p.Ala113Asp | |
| ENST00000333681.4:c.338C>A | ENSP00000329623.3:p.Ala113Asp | |
| ENST00000398117.1:c.338C>A | ENSP00000381185.1:p.Ala113Asp | |
| ENST00000589955.2:c.338C>A | ENSP00000466417.1:p.Ala113Asp | |
| NM_000633.2:c.338C>A | NP_000624.2:p.Ala113Asp | |
| NM_000657.2:c.338C>A | NP_000648.2:p.Ala113Asp | |
| XM_011526135.1:c.338C>A | XP_011524437.1:p.Ala113Asp | |
| XR_935246.1:n.1450C>A | ||
| XR_935247.1:n.1450C>A | ||
| XR_935248.1:n.1229C>A | ||
| XM_011526135.3:c.338C>A | XP_011524437.1:p.Ala113Asp | |
| XM_017025917.2:c.338C>A | XP_016881406.1:p.Ala113Asp | |
| XR_935248.3:n.1731C>A | ||
| NM_000633.3:c.338C>A MANE Select | NP_000624.2:p.Ala113Asp | |
| NM_000657.3:c.338C>A | NP_000648.2:p.Ala113Asp |