Linked Data
ClinVar Variation Id:
761987
ClinVar RCV Id:
RCV000940082
dbSNP Id:
rs1232468588
gnomAD v2:
9-6558670-C-T
gnomAD v3:
9-6558670-C-T
gnomAD v4:
9-6558670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558670C>T , CM000671.2:g.6558670C>T | GRCh38 |
| NC_000009.11:g.6558670C>T , CM000671.1:g.6558670C>T | GRCh37 |
| NC_000009.10:g.6548670C>T | NCBI36 |
| NG_016397.1:g.92023G>A , LRG_643:g.92023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1941G>A MANE Select | ENSP00000370737.4:p.Pro647= | |
| ENST00000460457.2:n.101G>A | ||
| ENST00000638233.1:n.376G>A | ||
| ENST00000638661.1:c.141G>A | ENSP00000491369.1:p.Pro47= | |
| ENST00000638694.1:n.128G>A | ||
| ENST00000639318.1:c.141G>A | ENSP00000491932.1:p.Pro47= | |
| ENST00000639364.1:n.1641G>A | ||
| ENST00000639443.1:n.1509G>A | ||
| ENST00000639954.1:n.1649G>A | ||
| ENST00000640208.1:c.141G>A | ENSP00000491895.1:p.Pro47= | |
| ENST00000640505.1:n.180G>A | ||
| ENST00000640592.1:n.1824G>A | ||
| ENST00000321612.6:c.1941G>A | ENSP00000370737.3:p.Pro647= | |
| ENST00000460457.1:n.80G>A | ||
| NM_000170.2:c.1941G>A , LRG_643t1:c.1941G>A | NP_000161.2:p.Pro647= | |
| NM_000170.3:c.1941G>A MANE Select | NP_000161.2:p.Pro647= |