Linked Data
ClinVar Variation Id:
287240
ClinVar RCV Id:
RCV000330963
dbSNP Id:
rs148849547
ExAC:
9:132576260 G / A
gnomAD v2:
9-132576260-G-A
gnomAD v3:
9-129813981-G-A
gnomAD v4:
9-129813981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813981G>A , CM000671.2:g.129813981G>A | GRCh38 |
| NC_000009.11:g.132576260G>A , CM000671.1:g.132576260G>A | GRCh37 |
| NC_000009.10:g.131616081G>A | NCBI36 |
| NG_008049.1:g.15182C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.990C>T MANE Select | ENSP00000345719.4:p.Tyr330= | |
| ENST00000651202.1:c.*258C>T | ENSP00000498222.1:n.*258C>T | |
| ENST00000351698.4:c.990C>T | ENSP00000345719.4:p.Tyr330= | |
| ENST00000474192.1:n.574C>T | ||
| NM_000113.2:c.990C>T | NP_000104.1:p.Tyr330= | |
| XR_929731.3:n.1185C>T | ||
| NM_000113.3:c.990C>T MANE Select | NP_000104.1:p.Tyr330= |