Linked Data
ClinVar Variation Id:
310333
dbSNP Id:
rs367623154
ExAC:
12:69746967 G / C
gnomAD v2:
12-69746967-G-C
gnomAD v3:
12-69353187-G-C
gnomAD v4:
12-69353187-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353187G>C , CM000674.2:g.69353187G>C | GRCh38 |
| NC_000012.11:g.69746967G>C , CM000674.1:g.69746967G>C | GRCh37 |
| NC_000012.10:g.68033234G>C | NCBI36 |
| NG_008195.1:g.9834G>C , LRG_768:g.9834G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.415G>C MANE Select | ENSP00000261267.2:p.Val139Leu | |
| ENST00000261267.6:c.415G>C | ENSP00000261267.2:p.Val139Leu | |
| ENST00000549690.1:c.336G>C | ENSP00000449898.1:p.Met112Ile | |
| NM_000239.2:c.415G>C , LRG_768t1:c.415G>C | NP_000230.1:p.Val139Leu | |
| NM_000239.3:c.415G>C MANE Select | NP_000230.1:p.Val139Leu |