Linked Data
dbSNP Id:
rs372883230
gnomAD v2:
12-50344624-T-C
gnomAD v3:
12-49950841-T-C
gnomAD v4:
12-49950841-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950841T>C , CM000674.2:g.49950841T>C | GRCh38 |
| NC_000012.11:g.50344624T>C , CM000674.1:g.50344624T>C | GRCh37 |
| NC_000012.10:g.48630891T>C | NCBI36 |
| NG_008913.1:g.5101T>C , LRG_717:g.5101T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.11T>C MANE Select | ENSP00000199280.3:p.Leu4Pro | |
| ENST00000199280.3:c.11T>C | ENSP00000199280.3:p.Leu4Pro | |
| ENST00000550862.1:c.11T>C | ENSP00000450022.1:p.Leu4Pro | |
| ENST00000551526.5:c.11T>C | ENSP00000447148.1:p.Leu4Pro | |
| NM_000486.5:c.11T>C , LRG_717t1:c.11T>C | NP_000477.1:p.Leu4Pro | |
| NM_000486.6:c.11T>C MANE Select | NP_000477.1:p.Leu4Pro |