Linked Data
dbSNP Id:
rs1334341809
gnomAD v2:
3-165548730-T-C
gnomAD v4:
3-165830942-T-C
COSMIC:
COSM1040859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830942T>C , CM000665.2:g.165830942T>C | GRCh38 |
| NC_000003.11:g.165548730T>C , CM000665.1:g.165548730T>C | GRCh37 |
| NC_000003.10:g.167031424T>C | NCBI36 |
| NG_009031.1:g.11524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.92A>G MANE Select | ENSP00000264381.3:p.Asp31Gly | |
| ENST00000264381.7:c.92A>G | ENSP00000264381.3:p.Asp31Gly | |
| ENST00000479451.5:c.107+6372A>G | ENSP00000418325.1:n.107+6372A>G | |
| ENST00000482958.1:c.92A>G | ENSP00000419804.1:p.Asp31Gly | |
| ENST00000488954.1:c.107+6372A>G | ENSP00000418504.1:n.107+6372A>G | |
| ENST00000497011.5:c.92A>G | ENSP00000419505.1:p.Asp31Gly | |
| NM_000055.2:c.92A>G | NP_000046.1:p.Asp31Gly | |
| XM_005247685.1:c.215A>G | XP_005247742.1:p.Asp72Gly | |
| NM_000055.3:c.92A>G | NP_000046.1:p.Asp31Gly | |
| NR_137635.1:n.159+6372A>G | ||
| NR_137636.1:n.259A>G | ||
| NM_000055.4:c.92A>G MANE Select | NP_000046.1:p.Asp31Gly | |
| NR_137635.2:n.110+6372A>G | ||
| NR_137636.2:n.210A>G |