Linked Data
ClinVar Variation Id:
255136
ClinVar RCV Id:
RCV000252460
dbSNP Id:
rs149514221
ExAC:
9:132580967 T / A
gnomAD v2:
9-132580967-T-A
gnomAD v3:
9-129818688-T-A
gnomAD v4:
9-129818688-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818688T>A , CM000671.2:g.129818688T>A | GRCh38 |
| NC_000009.11:g.132580967T>A , CM000671.1:g.132580967T>A | GRCh37 |
| NC_000009.10:g.131620788T>A | NCBI36 |
| NG_008049.1:g.10475A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.621-41A>T MANE Select | ENSP00000345719.4:n.621-41A>T | |
| ENST00000651202.1:c.717-41A>T | ENSP00000498222.1:n.717-41A>T | |
| ENST00000351698.4:c.621-41A>T | ENSP00000345719.4:n.621-41A>T | |
| ENST00000473604.2:n.731-41A>T | ||
| ENST00000474192.1:n.38-41A>T | ||
| NM_000113.2:c.621-41A>T | NP_000104.1:n.621-41A>T | |
| XR_929731.1:n.781-41A>T | ||
| XR_929731.3:n.649-41A>T | ||
| NM_000113.3:c.621-41A>T MANE Select | NP_000104.1:n.621-41A>T |