Linked Data
dbSNP Id:
rs201560896
ExAC:
12:116675553 T / C
gnomAD v2:
12-116675553-T-C
gnomAD v3:
12-116237748-T-C
gnomAD v4:
12-116237748-T-C
MyVariant Identifiers:
chr12:g.116675553T>C (hg19)
chr12:g.116675553_116675557delinsCACAG (hg19)
chr12:g.116237748T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116237748T>C , CM000674.2:g.116237748T>C | GRCh38 |
| NC_000012.11:g.116675553T>C , CM000674.1:g.116675553T>C | GRCh37 |
| NC_000012.10:g.115159936T>C | NCBI36 |
| NG_023366.1:g.44439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.73-43A>G MANE Select | ENSP00000281928.3:n.73-43A>G | |
| ENST00000548743.2:c.43-43A>G | ENSP00000448553.2:n.43-43A>G | |
| ENST00000551197.2:c.23-43A>G | ||
| ENST00000650226.1:c.73-43A>G | ENSP00000496981.1:n.73-43A>G | |
| ENST00000650375.1:n.235-43A>G | ||
| ENST00000281928.7:c.73-43A>G | ENSP00000281928.3:n.73-43A>G | |
| ENST00000548743.1:c.43-43A>G | ENSP00000448553.1:n.43-43A>G | |
| ENST00000551197.1:n.23-43A>G | ||
| NM_015335.4:c.73-43A>G | NP_056150.1:n.73-43A>G | |
| XM_011538080.1:c.73-43A>G | XP_011536382.1:n.73-43A>G | |
| XM_011538081.1:c.73-43A>G | XP_011536383.1:n.73-43A>G | |
| XM_011538082.1:c.43-43A>G | XP_011536384.1:n.43-43A>G | |
| XM_011538080.2:c.73-43A>G | XP_011536382.1:n.73-43A>G | |
| XM_011538081.2:c.73-43A>G | XP_011536383.1:n.73-43A>G | |
| XM_011538082.2:c.43-43A>G | XP_011536384.1:n.43-43A>G | |
| XM_017019090.1:c.73-43A>G | XP_016874579.1:n.73-43A>G | |
| NM_015335.5:c.73-43A>G MANE Select | NP_056150.1:n.73-43A>G |