Linked Data
dbSNP Id:
rs778876792
ExAC:
20:57599175 G / C
gnomAD v2:
20-57599175-G-C
gnomAD v3:
20-59024120-G-C
gnomAD v4:
20-59024120-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024120G>C , CM000682.2:g.59024120G>C | GRCh38 |
| NC_000020.10:g.57599175G>C , CM000682.1:g.57599175G>C | GRCh37 |
| NC_000020.9:g.57032570G>C | NCBI36 |
| NG_023424.2:g.9867G>C , LRG_581:g.9867G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217133.2:c.693G>C MANE Select | ENSP00000217133.1:p.Leu231Phe | |
| ENST00000217133.1:c.693G>C | ENSP00000217133.1:p.Leu231Phe | |
| NM_030773.3:c.693G>C , LRG_581t1:c.693G>C | NP_110400.1:p.Leu231Phe | |
| XM_017028085.1:c.627G>C | XP_016883574.1:p.Leu209Phe | |
| NM_030773.4:c.693G>C MANE Select | NP_110400.1:p.Leu231Phe |