dbSNP:
gnomAD v4:
Revel Score:
ENST00000343257 (MANE Select)
0.419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143320714G>C , CM000669.2:g.143320714G>C | GRCh38 |
| NC_000007.13:g.143017807G>C , CM000669.1:g.143017807G>C | GRCh37 |
| NC_000007.12:g.142727929G>C | NCBI36 |
| NG_009815.2:g.9589G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.352G>C | ENSP00000498052.2:p.Gly118Arg | |
| ENST00000343257.7:c.352G>C MANE Select | ENSP00000339867.2:p.Gly118Arg | |
| ENST00000432192.6:c.120G>C | ||
| ENST00000650516.1:c.352G>C | ENSP00000498052.1:p.Gly118Arg | |
| ENST00000343257.6:c.352G>C | ENSP00000339867.2:p.Gly118Arg | |
| XM_011515781.1:c.352G>C | XP_011514083.1:p.Gly118Arg | |
| XM_017011739.1:c.59G>C | XP_016867228.1:p.Arg20Pro | |
| XM_017011740.1:c.59G>C | XP_016867229.1:p.Arg20Pro | |
| NM_000083.3:c.352G>C MANE Select | NP_000074.3:p.Gly118Arg | |
| NR_046453.2:n.454G>C |