Linked Data
ClinVar Variation Id:
10168
ClinVar RCV Id:
RCV000010881
dbSNP Id:
rs137852385
PubMed:
PMID:1908096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997033T>C , CM000685.2:g.154997033T>C | GRCh38 |
| NC_000023.10:g.154225308T>C , CM000685.1:g.154225308T>C | GRCh37 |
| NC_000023.9:g.153878502T>C | NCBI36 |
| NG_011403.1:g.30691A>G | |
| NG_011403.2:g.30691A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.328A>G MANE Select | ENSP00000353393.4:p.Met110Val | |
| ENST00000647125.1:c.*114A>G | ENSP00000496062.1:n.*114A>G | |
| ENST00000360256.8:c.328A>G | ENSP00000353393.4:p.Met110Val | |
| ENST00000423959.5:c.223A>G | ENSP00000409446.1:p.Met75Val | |
| ENST00000453950.1:c.310A>G | ENSP00000389153.1:p.Met104Val | |
| NM_000132.3:c.328A>G | NP_000123.1:p.Met110Val | |
| XM_011531126.1:c.223A>G | XP_011529428.1:p.Met75Val | |
| NM_000132.4:c.328A>G MANE Select | NP_000123.1:p.Met110Val |