Linked Data
ClinVar Variation Id:
1314928
ClinVar RCV Id:
RCV001765969
dbSNP Id:
rs553710147
ExAC:
12:116450732 T / C
gnomAD v2:
12-116450732-T-C
gnomAD v3:
12-116012927-T-C
gnomAD v4:
12-116012927-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116012927T>C , CM000674.2:g.116012927T>C | GRCh38 |
| NC_000012.11:g.116450732T>C , CM000674.1:g.116450732T>C | GRCh37 |
| NC_000012.10:g.114935115T>C | NCBI36 |
| NG_023366.1:g.269260A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1176-26A>G MANE Select | ENSP00000281928.3:n.1176-26A>G | |
| ENST00000548743.2:c.1146-26A>G | ENSP00000448553.2:n.1146-26A>G | |
| ENST00000549786.2:c.604-26A>G | ||
| ENST00000647567.1:c.1086-29A>G | ENSP00000497136.1:n.1086-29A>G | |
| ENST00000648737.1:n.940-26A>G | ||
| ENST00000650226.1:c.1176-26A>G | ENSP00000496981.1:n.1176-26A>G | |
| ENST00000281928.7:c.1176-26A>G | ENSP00000281928.3:n.1176-26A>G | |
| NM_015335.4:c.1176-26A>G | NP_056150.1:n.1176-26A>G | |
| XM_011538080.1:c.1176-26A>G | XP_011536382.1:n.1176-26A>G | |
| XM_011538081.1:c.1176-26A>G | XP_011536383.1:n.1176-26A>G | |
| XM_011538082.1:c.1146-26A>G | XP_011536384.1:n.1146-26A>G | |
| XM_011538080.2:c.1176-26A>G | XP_011536382.1:n.1176-26A>G | |
| XM_011538081.2:c.1176-26A>G | XP_011536383.1:n.1176-26A>G | |
| XM_011538082.2:c.1146-26A>G | XP_011536384.1:n.1146-26A>G | |
| XM_017019090.1:c.1176-26A>G | XP_016874579.1:n.1176-26A>G | |
| NM_015335.5:c.1176-26A>G MANE Select | NP_056150.1:n.1176-26A>G |