Linked Data
ClinVar Variation Id:
237670
dbSNP Id:
rs374157786
ExAC:
13:49047524 G / A
gnomAD v2:
13-49047524-G-A
gnomAD v3:
13-48473388-G-A
gnomAD v4:
13-48473388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48473388G>A , CM000675.2:g.48473388G>A | GRCh38 |
| NC_000013.10:g.49047524G>A , CM000675.1:g.49047524G>A | GRCh37 |
| NC_000013.9:g.47945525G>A | NCBI36 |
| NG_009009.1:g.174642G>A , LRG_517:g.174642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2518G>A MANE Select | ENSP00000267163.4:p.Gly840Arg | |
| ENST00000643064.1:c.194+91945G>A | ||
| ENST00000650461.1:c.2518G>A | ENSP00000497193.1:p.Gly840Arg | |
| ENST00000267163.4:c.2518G>A | ENSP00000267163.4:p.Gly840Arg | |
| NM_000321.2:c.2518G>A , LRG_517t1:c.2518G>A | NP_000312.2:p.Gly840Arg | |
| XM_011535171.1:c.2257G>A | XP_011533473.1:p.Gly753Arg | |
| XM_011535171.2:c.2257G>A | XP_011533473.1:p.Gly753Arg | |
| NM_000321.3:c.2518G>A MANE Select | NP_000312.2:p.Gly840Arg |