Linked Data
dbSNP Id:
rs970849113
gnomAD v2:
17-56357867-T-C
gnomAD v3:
17-58280506-T-C
gnomAD v4:
17-58280506-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280506T>C , CM000679.2:g.58280506T>C | GRCh38 |
| NC_000017.10:g.56357867T>C , CM000679.1:g.56357867T>C | GRCh37 |
| NC_000017.9:g.53712866T>C | NCBI36 |
| NG_009629.1:g.5430A>G , LRG_84:g.5430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225275.4:c.155-47A>G MANE Select | ENSP00000225275.3:n.155-47A>G | |
| ENST00000225275.3:c.155-47A>G | ENSP00000225275.3:n.155-47A>G | |
| ENST00000580005.1:n.84-47A>G | ||
| NM_000250.1:c.155-47A>G , LRG_84t1:c.155-47A>G | NP_000241.1:n.155-47A>G | |
| XM_011524821.1:c.341-47A>G | XP_011523123.1:n.341-47A>G | |
| XM_011524822.1:c.-38+99A>G | XP_011523124.1:n.-38+99A>G | |
| XM_011524823.1:c.341-47A>G | XP_011523125.1:n.341-47A>G | |
| NM_000250.2:c.155-47A>G MANE Select | NP_000241.1:n.155-47A>G |