Linked Data
ClinVar Variation Id:
224323
dbSNP Id:
rs61753224
gnomAD v2:
6-42935275-G-A
gnomAD v4:
6-42967537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42967537G>A , CM000668.2:g.42967537G>A | GRCh38 |
| NC_000006.11:g.42935275G>A , CM000668.1:g.42935275G>A | GRCh37 |
| NC_000006.10:g.43043253G>A | NCBI36 |
| NG_008370.1:g.16707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1715C>T MANE Select | ENSP00000303511.8:p.Thr572Ile | |
| ENST00000244546.4:c.1715C>T | ENSP00000244546.4:p.Thr572Ile | |
| ENST00000304611.12:c.1715C>T | ENSP00000303511.8:p.Thr572Ile | |
| NM_000287.3:c.1715C>T | NP_000278.3:p.Thr572Ile | |
| NM_001316313.1:c.1451C>T | NP_001303242.1:p.Thr484Ile | |
| NR_133009.1:n.1808C>T | ||
| XM_011514661.1:c.1631C>T | XP_011512963.1:p.Thr544Ile | |
| XR_926246.1:n.1696C>T | ||
| XM_011514661.2:c.1631C>T | XP_011512963.1:p.Thr544Ile | |
| XR_001743466.2:n.2677C>T | ||
| NM_000287.4:c.1715C>T MANE Select | NP_000278.3:p.Thr572Ile | |
| NM_001316313.2:c.1451C>T | NP_001303242.1:p.Thr484Ile | |
| NR_133009.2:n.1746C>T |