Linked Data
dbSNP Id:
rs1421011827
gnomAD v2:
1-24124617-T-C
gnomAD v3:
1-23798127-T-C
gnomAD v4:
1-23798127-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798127T>C , CM000663.2:g.23798127T>C | GRCh38 |
| NC_000001.10:g.24124617T>C , CM000663.1:g.24124617T>C | GRCh37 |
| NC_000001.9:g.23997204T>C | NCBI36 |
| NG_007068.1:g.7678A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.341A>G MANE Select | ENSP00000483375.1:p.Gln114Arg | |
| ENST00000374497.7:c.341A>G | ENSP00000363621.3:p.Gln114Arg | |
| ENST00000418277.5:c.149A>G | ENSP00000414719.1:p.Gln50Arg | |
| ENST00000425913.5:c.341A>G | ENSP00000393359.1:p.Gln114Arg | |
| ENST00000429356.5:c.149A>G | ENSP00000398585.1:p.Gln50Arg | |
| ENST00000445705.1:c.341A>G | ENSP00000398257.1:p.Gln114Arg | |
| ENST00000459934.5:n.459A>G | ||
| ENST00000467493.5:n.801A>G | ||
| ENST00000470949.5:n.286A>G | ||
| ENST00000481736.5:n.745A>G | ||
| ENST00000486382.1:n.442A>G | ||
| ENST00000617979.4:c.341A>G | ENSP00000483375.1:p.Gln114Arg | |
| NM_000403.3:c.341A>G | NP_000394.2:p.Gln114Arg | |
| NM_001008216.1:c.341A>G | NP_001008217.1:p.Gln114Arg | |
| NM_001127621.1:c.341A>G | NP_001121093.1:p.Gln114Arg | |
| NM_001008216.2:c.341A>G MANE Select | NP_001008217.1:p.Gln114Arg | |
| NM_000403.4:c.341A>G | NP_000394.2:p.Gln114Arg | |
| NM_001127621.2:c.341A>G | NP_001121093.1:p.Gln114Arg |