Linked Data
ClinVar Variation Id:
97399
ClinVar RCV Id:
RCV003764773
dbSNP Id:
rs61750389
gnomAD v4:
2-31580643-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580643G>C , CM000664.2:g.31580643G>C | GRCh38 |
| NC_000002.11:g.31805713G>C , CM000664.1:g.31805713G>C | GRCh37 |
| NC_000002.10:g.31659217G>C | NCBI36 |
| NG_008365.1:g.5329C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.258C>G MANE Select | ENSP00000477587.1:p.Leu86= | |
| ENST00000622030.1:c.258C>G | ENSP00000477587.1:p.Leu86= | |
| NM_000348.3:c.258C>G | NP_000339.2:p.Leu86= | |
| XM_011533068.1:c.258C>G | XP_011531370.1:p.Leu86= | |
| XM_011533070.1:c.27-46877C>G | XP_011531372.1:n.27-46877C>G | |
| XM_011533071.1:c.27-46877C>G | XP_011531373.1:n.27-46877C>G | |
| XM_011533072.1:c.27-46877C>G | XP_011531374.1:n.27-46877C>G | |
| XM_011533072.2:c.27-46877C>G | XP_011531374.1:n.27-46877C>G | |
| NM_000348.4:c.258C>G MANE Select | NP_000339.2:p.Leu86= |