Linked Data
dbSNP Id:
rs757838701
ExAC:
3:138664453 T / G
gnomAD v2:
3-138664453-T-G
gnomAD v3:
3-138945611-T-G
gnomAD v4:
3-138945611-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945611T>G , CM000665.2:g.138945611T>G | GRCh38 |
| NC_000003.11:g.138664453T>G , CM000665.1:g.138664453T>G | GRCh37 |
| NC_000003.10:g.140147143T>G | NCBI36 |
| NG_012454.1:g.6530A>C | |
| NG_029796.1:g.3378T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1112A>C MANE Select | ENSP00000497217.1:p.His371Pro | |
| ENST00000330315.3:c.1112A>C | ENSP00000333188.3:p.His371Pro | |
| NM_023067.3:c.1112A>C | NP_075555.1:p.His371Pro | |
| NM_023067.4:c.1112A>C MANE Select | NP_075555.1:p.His371Pro |