Linked Data
ClinVar Variation Id:
3632
dbSNP Id:
rs35897051
ExAC:
17:56348226 T / G
gnomAD v2:
17-56348226-T-G
gnomAD v3:
17-58270865-T-G
gnomAD v4:
17-58270865-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58270865T>G , CM000679.2:g.58270865T>G | GRCh38 |
| NC_000017.10:g.56348226T>G , CM000679.1:g.56348226T>G | GRCh37 |
| NC_000017.9:g.53703225T>G | NCBI36 |
| NG_009629.1:g.15071A>C , LRG_84:g.15071A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578493.2:n.1364-2A>C | ||
| ENST00000699291.1:c.1156-2A>C | ENSP00000514272.1:n.1156-2A>C | |
| ENST00000699292.1:n.1566-2A>C | ||
| ENST00000225275.4:c.2031-2A>C MANE Select | ENSP00000225275.3:n.2031-2A>C | |
| ENST00000225275.3:c.2031-2A>C | ENSP00000225275.3:n.2031-2A>C | |
| ENST00000577220.1:c.184-60A>C | ENSP00000464668.1:n.184-60A>C | |
| NM_000250.1:c.2031-2A>C , LRG_84t1:c.2031-2A>C | NP_000241.1:n.2031-2A>C | |
| XM_011524821.1:c.2217-2A>C | XP_011523123.1:n.2217-2A>C | |
| XM_011524822.1:c.1746-2A>C | XP_011523124.1:n.1746-2A>C | |
| NM_000250.2:c.2031-2A>C MANE Select | NP_000241.1:n.2031-2A>C |