Linked Data
ClinVar Variation Id:
2068877
ClinVar RCV Id:
RCV002975164
dbSNP Id:
rs79148472
gnomAD v4:
8-37765583-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765583A>C , CM000670.2:g.37765583A>C | GRCh38 |
| NC_000008.10:g.37623101A>C , CM000670.1:g.37623101A>C | GRCh37 |
| NC_000008.9:g.37742259A>C | NCBI36 |
| NG_053030.1:g.8831A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.157A>C MANE Select | ENSP00000333551.3:p.Met53Leu | |
| ENST00000328195.7:c.157A>C | ENSP00000333551.3:p.Met53Leu | |
| ENST00000518036.5:c.157A>C | ENSP00000428005.1:p.Met53Leu | |
| ENST00000520073.5:n.222A>C | ||
| ENST00000523187.5:c.1A>C | ENSP00000427886.1:p.Met1Leu | |
| ENST00000523358.5:c.157A>C | ENSP00000427778.1:p.Met53Leu | |
| ENST00000523994.1:n.162A>C | ||
| NM_007198.3:c.157A>C | NP_009129.1:p.Met53Leu | |
| NM_001349346.1:c.157A>C | NP_001336275.1:p.Met53Leu | |
| NM_001349347.1:c.157A>C | NP_001336276.1:p.Met53Leu | |
| NM_001349348.1:c.1A>C | NP_001336277.1:p.Met1Leu | |
| NM_001349349.1:c.262A>C | NP_001336278.1:p.Met88Leu | |
| NM_007198.4:c.157A>C MANE Select | NP_009129.1:p.Met53Leu | |
| NM_001349346.2:c.157A>C | NP_001336275.1:p.Met53Leu | |
| NM_001349347.2:c.157A>C | NP_001336276.1:p.Met53Leu | |
| NM_001349348.2:c.1A>C | NP_001336277.1:p.Met1Leu |