Linked Data
ClinVar Variation Id:
873516
ClinVar RCV Id:
RCV001095767
dbSNP Id:
rs775809529
gnomAD v2:
19-15290980-G-A
gnomAD v4:
19-15180169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180169G>A , CM000681.2:g.15180169G>A | GRCh38 |
| NC_000019.9:g.15290980G>A , CM000681.1:g.15290980G>A | GRCh37 |
| NC_000019.8:g.15151980G>A | NCBI36 |
| NG_009819.1:g.25813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3230C>T MANE Select | ENSP00000263388.1:p.Thr1077Ile | |
| ENST00000263388.6:c.3230C>T | ENSP00000263388.1:p.Thr1077Ile | |
| ENST00000601011.1:c.3071C>T | ENSP00000473138.1:p.Thr1024Ile | |
| NM_000435.2:c.3230C>T | NP_000426.2:p.Thr1077Ile | |
| XM_005259924.3:c.3074C>T | XP_005259981.1:p.Thr1025Ile | |
| XM_005259924.4:c.3074C>T | XP_005259981.1:p.Thr1025Ile | |
| NM_000435.3:c.3230C>T MANE Select | NP_000426.2:p.Thr1077Ile |