Linked Data
dbSNP Id:
rs1432060450
gnomAD v2:
20-3063638-C-G
gnomAD v3:
20-3082992-C-G
gnomAD v4:
20-3082992-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082992C>G , CM000682.2:g.3082992C>G | GRCh38 |
| NC_000020.10:g.3063638C>G , CM000682.1:g.3063638C>G | GRCh37 |
| NC_000020.9:g.3011638C>G | NCBI36 |
| NG_008663.1:g.6733G>C , LRG_715:g.6733G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.307G>C MANE Select | ENSP00000369647.3:p.Val103Leu | |
| NM_000490.4:c.307G>C , LRG_715t1:c.307G>C | NP_000481.2:p.Val103Leu | |
| XM_011529267.1:c.307G>C | XP_011527569.1:p.Val103Leu | |
| XM_011529267.2:c.307G>C | XP_011527569.1:p.Val103Leu | |
| NM_000490.5:c.307G>C MANE Select | NP_000481.2:p.Val103Leu |