Linked Data
ClinVar Variation Id:
342739
ClinVar RCV Id:
RCV000267668
dbSNP Id:
rs755078457
ExAC:
3:120352155 T / G
gnomAD v2:
3-120352155-T-G
gnomAD v3:
3-120633308-T-G
gnomAD v4:
3-120633308-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633308T>G , CM000665.2:g.120633308T>G | GRCh38 |
| NC_000003.11:g.120352155T>G , CM000665.1:g.120352155T>G | GRCh37 |
| NC_000003.10:g.121834845T>G | NCBI36 |
| NG_011957.1:g.54174A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1027A>C MANE Select | ENSP00000283871.5:p.Met343Leu | |
| ENST00000283871.9:c.1027A>C | ENSP00000283871.5:p.Met343Leu | |
| ENST00000470321.1:n.367A>C | ||
| ENST00000492108.5:c.306A>C | ENSP00000419838.1:n.306A>C | |
| NM_000187.3:c.1027A>C | NP_000178.2:p.Met343Leu | |
| XM_005247412.1:c.802A>C | XP_005247469.1:p.Met268Leu | |
| XM_005247412.2:c.802A>C | XP_005247469.1:p.Met268Leu | |
| XM_017006277.2:c.604A>C | XP_016861766.1:p.Met202Leu | |
| NM_000187.4:c.1027A>C MANE Select | NP_000178.2:p.Met343Leu |