Linked Data
dbSNP Id:
rs1990330
gnomAD v2:
12-3147462-A-C
gnomAD v3:
12-3038296-A-C
gnomAD v4:
12-3038296-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3038296A>C , CM000674.2:g.3038296A>C | GRCh38 |
| NC_000012.11:g.3147462A>C , CM000674.1:g.3147462A>C | GRCh37 |
| NC_000012.10:g.3017723A>C | NCBI36 |
| NG_029958.1:g.83985A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358409.7:c.909+188A>C | ENSP00000351184.3:n.909+188A>C | |
| ENST00000359864.8:c.1038+188A>C MANE Select | ENSP00000352926.3:n.1038+188A>C | |
| ENST00000358409.6:c.909+188A>C | ENSP00000351184.2:n.909+188A>C | |
| ENST00000359864.6:c.1038+188A>C | ENSP00000352926.2:n.1038+188A>C | |
| ENST00000397122.6:c.651+188A>C | ENSP00000380311.2:n.651+188A>C | |
| NM_003213.3:c.1038+188A>C | NP_003204.2:n.1038+188A>C | |
| NM_201441.2:c.909+188A>C | NP_958849.1:n.909+188A>C | |
| NM_201443.2:c.651+188A>C | NP_958851.1:n.651+188A>C | |
| NM_003213.4:c.1038+188A>C MANE Select | NP_003204.2:n.1038+188A>C | |
| NM_201441.3:c.909+188A>C | NP_958849.1:n.909+188A>C | |
| NM_201443.3:c.651+188A>C | NP_958851.1:n.651+188A>C |