Linked Data
ClinVar Variation Id:
324975
dbSNP Id:
rs148773959
ExAC:
17:71202893 G / A
gnomAD v2:
17-71202893-G-A
gnomAD v3:
17-73206754-G-A
gnomAD v4:
17-73206754-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73206754G>A , CM000679.2:g.73206754G>A | GRCh38 |
| NC_000017.10:g.71202893G>A , CM000679.1:g.71202893G>A | GRCh37 |
| NC_000017.9:g.68714488G>A | NCBI36 |
| NG_008971.1:g.18721G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.2666G>A MANE Select | ENSP00000299886.4:p.Arg889Gln | |
| ENST00000299886.8:c.2666G>A | ENSP00000299886.4:p.Arg889Gln | |
| ENST00000438720.7:c.2664G>A | ||
| ENST00000577238.1:n.372G>A | ||
| ENST00000580271.5:n.266G>A | ||
| ENST00000582512.5:c.222G>A | ||
| ENST00000582672.1:c.151G>A | ||
| ENST00000582973.1:c.14G>A | ENSP00000462709.1:p.Arg5Gln | |
| ENST00000618996.4:c.2666G>A | ENSP00000479450.1:p.Arg889Gln | |
| NM_018714.2:c.2666G>A | NP_061184.1:p.Arg889Gln | |
| NM_018714.3:c.2666G>A MANE Select | NP_061184.1:p.Arg889Gln |