Linked Data
dbSNP Id:
rs754604247
ExAC:
12:116434909 T / C
gnomAD v2:
12-116434909-T-C
gnomAD v4:
12-115997104-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997104T>C , CM000674.2:g.115997104T>C | GRCh38 |
| NC_000012.11:g.116434909T>C , CM000674.1:g.116434909T>C | GRCh37 |
| NC_000012.10:g.114919292T>C | NCBI36 |
| NG_023366.1:g.285083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2696A>G MANE Select | ENSP00000281928.3:p.Glu899Gly | |
| ENST00000548743.2:c.2666A>G | ENSP00000448553.2:p.Glu889Gly | |
| ENST00000549786.2:c.2124A>G | ||
| ENST00000647927.1:n.3069A>G | ||
| ENST00000648173.1:n.1491A>G | ||
| ENST00000648379.1:n.1064A>G | ||
| ENST00000648737.1:n.2460A>G | ||
| ENST00000648916.1:n.707A>G | ||
| ENST00000649607.1:c.880A>G | ||
| ENST00000650226.1:c.2696A>G | ENSP00000496981.1:p.Glu899Gly | |
| ENST00000281928.7:c.2696A>G | ENSP00000281928.3:p.Glu899Gly | |
| NM_015335.4:c.2696A>G | NP_056150.1:p.Glu899Gly | |
| XM_011538080.1:c.2696A>G | XP_011536382.1:p.Glu899Gly | |
| XM_011538081.1:c.2693A>G | XP_011536383.1:p.Glu898Gly | |
| XM_011538082.1:c.2666A>G | XP_011536384.1:p.Glu889Gly | |
| XM_011538080.2:c.2696A>G | XP_011536382.1:p.Glu899Gly | |
| XM_011538081.2:c.2693A>G | XP_011536383.1:p.Glu898Gly | |
| XM_011538082.2:c.2666A>G | XP_011536384.1:p.Glu889Gly | |
| XM_017019090.1:c.2693A>G | XP_016874579.1:p.Glu898Gly | |
| NM_015335.5:c.2696A>G MANE Select | NP_056150.1:p.Glu899Gly |