Linked Data
ClinVar Variation Id:
288669
dbSNP Id:
rs886043974
gnomAD v2:
14-77753129-G-A
gnomAD v4:
14-77286786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286786G>A , CM000676.2:g.77286786G>A | GRCh38 |
| NC_000014.8:g.77753129G>A , CM000676.1:g.77753129G>A | GRCh37 |
| NC_000014.7:g.76822882G>A | NCBI36 |
| NG_008897.1:g.39097C>T , LRG_844:g.39097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.831C>T | ENSP00000451967.2:p.Ala277= | |
| ENST00000682247.1:c.1290C>T | ENSP00000507213.1:p.Ala430= | |
| ENST00000682382.1:c.862C>T | ||
| ENST00000682395.1:n.1468C>T | ||
| ENST00000682459.1:n.993C>T | ||
| ENST00000682467.1:c.1290C>T | ENSP00000508062.1:p.Ala430= | |
| ENST00000682706.1:n.67C>T | ||
| ENST00000682795.1:c.1290C>T | ENSP00000507574.1:p.Ala430= | |
| ENST00000682895.1:n.1006C>T | ||
| ENST00000682955.1:n.578C>T | ||
| ENST00000683188.1:c.1265C>T | ||
| ENST00000683328.1:c.283C>T | ENSP00000508096.1:n.283C>T | |
| ENST00000683380.1:n.954C>T | ||
| ENST00000683828.1:c.999C>T | ||
| ENST00000684259.1:n.1141C>T | ||
| ENST00000684444.1:c.37C>T | ||
| ENST00000684549.1:n.841C>T | ||
| ENST00000261534.9:c.1290C>T MANE Select | ENSP00000261534.4:p.Ala430= | |
| ENST00000261534.8:c.1290C>T | ENSP00000261534.4:p.Ala430= | |
| ENST00000452340.7:n.1313C>T | ||
| ENST00000553880.5:n.161C>T | ||
| ENST00000554767.5:n.2076C>T | ||
| ENST00000554884.5:n.282C>T | ||
| ENST00000556404.1:n.424C>T | ||
| ENST00000556851.1:n.326C>T | ||
| ENST00000557675.5:n.380C>T | ||
| NM_013382.5:c.1290C>T , LRG_844t1:c.1290C>T | NP_037514.2:p.Ala430= | |
| XM_011536675.1:c.1290C>T | XP_011534977.1:p.Ala430= | |
| XM_011536676.1:c.957C>T | XP_011534978.1:p.Ala319= | |
| XM_011536677.1:c.831C>T | XP_011534979.1:p.Ala277= | |
| XM_011536678.1:c.1290C>T | XP_011534980.1:p.Ala430= | |
| XM_011536679.1:c.384C>T | XP_011534981.1:p.Ala128= | |
| XR_943416.1:n.1493C>T | ||
| XM_011536675.2:c.1290C>T | XP_011534977.1:p.Ala430= | |
| XM_011536676.2:c.957C>T | XP_011534978.1:p.Ala319= | |
| XM_011536677.3:c.831C>T | XP_011534979.1:p.Ala277= | |
| XR_001750279.1:n.1490C>T | ||
| XR_001750282.1:n.1943C>T | ||
| XR_943416.3:n.1491C>T | ||
| NM_013382.6:c.1290C>T | NP_037514.2:p.Ala430= | |
| NM_013382.7:c.1290C>T MANE Select | NP_037514.2:p.Ala430= |