Linked Data
dbSNP Id:
rs749039247
ExAC:
12:116675424 A / G
gnomAD v2:
12-116675424-A-G
gnomAD v4:
12-116237619-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116237619A>G , CM000674.2:g.116237619A>G | GRCh38 |
| NC_000012.11:g.116675424A>G , CM000674.1:g.116675424A>G | GRCh37 |
| NC_000012.10:g.115159807A>G | NCBI36 |
| NG_023366.1:g.44568T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.159T>C MANE Select | ENSP00000281928.3:p.Asp53= | |
| ENST00000548743.2:c.129T>C | ENSP00000448553.2:p.Asp43= | |
| ENST00000551197.2:c.109T>C | ||
| ENST00000647567.1:c.69T>C | ENSP00000497136.1:p.Asp23= | |
| ENST00000650226.1:c.159T>C | ENSP00000496981.1:p.Asp53= | |
| ENST00000650375.1:n.321T>C | ||
| ENST00000281928.7:c.159T>C | ENSP00000281928.3:p.Asp53= | |
| ENST00000548743.1:c.129T>C | ENSP00000448553.1:p.Asp43= | |
| ENST00000551197.1:n.109T>C | ||
| NM_015335.4:c.159T>C | NP_056150.1:p.Asp53= | |
| XM_011538080.1:c.159T>C | XP_011536382.1:p.Asp53= | |
| XM_011538081.1:c.159T>C | XP_011536383.1:p.Asp53= | |
| XM_011538082.1:c.129T>C | XP_011536384.1:p.Asp43= | |
| XM_011538080.2:c.159T>C | XP_011536382.1:p.Asp53= | |
| XM_011538081.2:c.159T>C | XP_011536383.1:p.Asp53= | |
| XM_011538082.2:c.129T>C | XP_011536384.1:p.Asp43= | |
| XM_017019090.1:c.159T>C | XP_016874579.1:p.Asp53= | |
| NM_015335.5:c.159T>C MANE Select | NP_056150.1:p.Asp53= |