Linked Data
ClinVar Variation Id:
1130164
ClinVar RCV Id:
RCV001463598
dbSNP Id:
rs1314994550
gnomAD v2:
10-91007364-G-C
gnomAD v4:
10-89247607-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89247607G>C , CM000672.2:g.89247607G>C | GRCh38 |
| NC_000010.10:g.91007364G>C , CM000672.1:g.91007364G>C | GRCh37 |
| NC_000010.9:g.90997344G>C | NCBI36 |
| NG_008194.1:g.9297C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336233.10:c.42C>G MANE Select | ENSP00000337354.5:p.Leu14= | |
| ENST00000282673.5:c.42C>G | ENSP00000282673.4:p.Leu14= | |
| ENST00000336233.9:c.42C>G | ENSP00000337354.5:p.Leu14= | |
| ENST00000371837.5:c.62-19209C>G | ENSP00000360903.1:n.62-19209C>G | |
| ENST00000428800.5:c.42C>G | ENSP00000388415.1:p.Leu14= | |
| ENST00000456827.5:c.-120+4130C>G | ENSP00000413019.2:n.-120+4130C>G | |
| NM_000235.3:c.42C>G | NP_000226.2:p.Leu14= | |
| NM_001127605.2:c.42C>G | NP_001121077.1:p.Leu14= | |
| NM_001288979.1:c.-120+4130C>G | NP_001275908.1:n.-120+4130C>G | |
| XM_024448023.1:c.42C>G | XP_024303791.1:p.Leu14= | |
| NM_000235.4:c.42C>G MANE Select | NP_000226.2:p.Leu14= | |
| NM_001127605.3:c.42C>G | NP_001121077.1:p.Leu14= | |
| NM_001288979.2:c.-120+4130C>G | NP_001275908.1:n.-120+4130C>G |