Linked Data
dbSNP Id:
rs753182755
ExAC:
12:116420392 T / C
gnomAD v2:
12-116420392-T-C
gnomAD v4:
12-115982587-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982587T>C , CM000674.2:g.115982587T>C | GRCh38 |
| NC_000012.11:g.116420392T>C , CM000674.1:g.116420392T>C | GRCh37 |
| NC_000012.10:g.114904775T>C | NCBI36 |
| NG_023366.1:g.299600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.4972A>G MANE Select | ENSP00000281928.3:p.Arg1658Gly | |
| ENST00000549786.2:c.4400A>G | ||
| ENST00000648379.1:n.3340A>G | ||
| ENST00000648737.1:n.4736A>G | ||
| ENST00000648825.1:n.1712A>G | ||
| ENST00000648916.1:n.2983A>G | ||
| ENST00000649146.1:n.2215A>G | ||
| ENST00000649607.1:c.3156A>G | ||
| ENST00000649775.1:c.1461A>G | ||
| ENST00000650226.1:c.4972A>G | ENSP00000496981.1:p.Arg1658Gly | |
| ENST00000281928.7:c.4972A>G | ENSP00000281928.3:p.Arg1658Gly | |
| ENST00000549786.1:c.336A>G | ||
| ENST00000552340.1:c.4A>G | ENSP00000449876.1:p.Arg2Gly | |
| NM_015335.4:c.4972A>G | NP_056150.1:p.Arg1658Gly | |
| XM_011538080.1:c.4972A>G | XP_011536382.1:p.Arg1658Gly | |
| XM_011538081.1:c.4969A>G | XP_011536383.1:p.Arg1657Gly | |
| XM_011538082.1:c.4942A>G | XP_011536384.1:p.Arg1648Gly | |
| XM_011538080.2:c.4972A>G | XP_011536382.1:p.Arg1658Gly | |
| XM_011538081.2:c.4969A>G | XP_011536383.1:p.Arg1657Gly | |
| XM_011538082.2:c.4942A>G | XP_011536384.1:p.Arg1648Gly | |
| XM_017019090.1:c.4969A>G | XP_016874579.1:p.Arg1657Gly | |
| NM_015335.5:c.4972A>G MANE Select | NP_056150.1:p.Arg1658Gly |