Linked Data
dbSNP Id:
rs1367846042
gnomAD v2:
7-98021179-T-C
gnomAD v3:
7-98391867-T-C
gnomAD v4:
7-98391867-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98391867T>C , CM000669.2:g.98391867T>C | GRCh38 |
| NC_000007.13:g.98021179T>C , CM000669.1:g.98021179T>C | GRCh37 |
| NC_000007.12:g.97859115T>C | NCBI36 |
| NG_013090.1:g.14249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005260.9:c.51+8935A>G MANE Select | ENSP00000005260.8:n.51+8935A>G | |
| ENST00000005260.8:c.51+8935A>G | ENSP00000005260.8:n.51+8935A>G | |
| ENST00000462558.5:n.267+8935A>G | ||
| ENST00000479789.1:n.357+8114A>G | ||
| NM_018842.4:c.51+8935A>G | NP_061330.2:n.51+8935A>G | |
| NM_018842.5:c.51+8935A>G MANE Select | NP_061330.2:n.51+8935A>G |