Linked Data
ClinVar Variation Id:
254211
dbSNP Id:
rs201135624
ExAC:
9:6558671 G / A
gnomAD v2:
9-6558671-G-A
gnomAD v3:
9-6558671-G-A
gnomAD v4:
9-6558671-G-A
COSMIC:
COSM1569939
PubMed:
PMID:27799067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558671G>A , CM000671.2:g.6558671G>A | GRCh38 |
| NC_000009.11:g.6558671G>A , CM000671.1:g.6558671G>A | GRCh37 |
| NC_000009.10:g.6548671G>A | NCBI36 |
| NG_016397.1:g.92022C>T , LRG_643:g.92022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1940C>T MANE Select | ENSP00000370737.4:p.Pro647Leu | |
| ENST00000460457.2:n.100C>T | ||
| ENST00000638233.1:n.375C>T | ||
| ENST00000638661.1:c.140C>T | ENSP00000491369.1:p.Pro47Leu | |
| ENST00000638694.1:n.127C>T | ||
| ENST00000639318.1:c.140C>T | ENSP00000491932.1:p.Pro47Leu | |
| ENST00000639364.1:n.1640C>T | ||
| ENST00000639443.1:n.1508C>T | ||
| ENST00000639954.1:n.1648C>T | ||
| ENST00000640208.1:c.140C>T | ENSP00000491895.1:p.Pro47Leu | |
| ENST00000640505.1:n.179C>T | ||
| ENST00000640592.1:n.1823C>T | ||
| ENST00000321612.6:c.1940C>T | ENSP00000370737.3:p.Pro647Leu | |
| ENST00000460457.1:n.79C>T | ||
| NM_000170.2:c.1940C>T , LRG_643t1:c.1940C>T | NP_000161.2:p.Pro647Leu | |
| NM_000170.3:c.1940C>T MANE Select | NP_000161.2:p.Pro647Leu |