Linked Data
ClinVar Variation Id:
367177
dbSNP Id:
rs141152043
ExAC:
9:6536219 T / C
gnomAD v2:
9-6536219-T-C
gnomAD v3:
9-6536219-T-C
gnomAD v4:
9-6536219-T-C
COSMIC:
COSM3367737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6536219T>C , CM000671.2:g.6536219T>C | GRCh38 |
| NC_000009.11:g.6536219T>C , CM000671.1:g.6536219T>C | GRCh37 |
| NC_000009.10:g.6526219T>C | NCBI36 |
| NG_016397.1:g.114474A>G , LRG_643:g.114474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2683A>G MANE Select | ENSP00000370737.4:p.Met895Val | |
| ENST00000638233.1:n.1118A>G | ||
| ENST00000638661.1:c.883A>G | ENSP00000491369.1:p.Met295Val | |
| ENST00000638694.1:n.870A>G | ||
| ENST00000639318.1:c.787A>G | ENSP00000491932.1:p.Met263Val | |
| ENST00000639364.1:n.2383A>G | ||
| ENST00000639443.1:n.2251A>G | ||
| ENST00000639461.1:n.1784A>G | ||
| ENST00000639639.1:c.385A>G | ENSP00000491312.1:p.Met129Val | |
| ENST00000639954.1:n.2391A>G | ||
| ENST00000640505.1:n.922A>G | ||
| ENST00000321612.6:c.2683A>G | ENSP00000370737.3:p.Met895Val | |
| ENST00000477960.1:n.147A>G | ||
| NM_000170.2:c.2683A>G , LRG_643t1:c.2683A>G | NP_000161.2:p.Met895Val | |
| NM_000170.3:c.2683A>G MANE Select | NP_000161.2:p.Met895Val |