Linked Data
ClinVar Variation Id:
402256
ClinVar RCV Id:
RCV000454263
dbSNP Id:
rs1060499795
gnomAD v4:
5-90728933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90728933G>A , CM000667.2:g.90728933G>A | GRCh38 |
| NC_000005.9:g.90024750G>A , CM000667.1:g.90024750G>A | GRCh37 |
| NC_000005.8:g.90060506G>A | NCBI36 |
| NG_007083.1:g.175134G>A | |
| NG_007083.2:g.204590G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.10426G>A MANE Select | ENSP00000384582.2:p.Gly3476Arg | |
| ENST00000639431.1:c.265+52724G>A | ENSP00000491057.1:n.265+52724G>A | |
| ENST00000640374.1:n.3570G>A | ||
| ENST00000640464.1:n.845G>A | ||
| ENST00000405460.6:c.10426G>A | ENSP00000384582.2:p.Gly3476Arg | |
| ENST00000509621.1:c.3123G>A | ||
| NM_032119.3:c.10426G>A | NP_115495.3:p.Gly3476Arg | |
| NR_003149.1:n.10439G>A | ||
| XM_011543675.1:c.10423G>A | XP_011541977.1:p.Gly3475Arg | |
| XM_011543676.1:c.10345G>A | XP_011541978.1:p.Gly3449Arg | |
| XM_011543677.1:c.7729G>A | XP_011541979.1:p.Gly2577Arg | |
| XM_011543678.1:c.10426G>A | XP_011541980.1:p.Gly3476Arg | |
| XM_011543679.1:c.10426G>A | XP_011541981.1:p.Gly3476Arg | |
| XR_948560.1:n.271+11974C>T | ||
| NM_032119.4:c.10426G>A MANE Select | NP_115495.3:p.Gly3476Arg | |
| XM_017009963.2:c.10447G>A | XP_016865452.1:p.Gly3483Arg | |
| XM_017009964.2:c.10444G>A | XP_016865453.1:p.Gly3482Arg | |
| XM_017009965.1:c.10444G>A | XP_016865454.1:p.Gly3482Arg | |
| XM_017009966.2:c.10366G>A | XP_016865455.1:p.Gly3456Arg | |
| XM_017009967.1:c.10351G>A | XP_016865456.1:p.Gly3451Arg | |
| XM_017009968.2:c.10447G>A | XP_016865457.1:p.Gly3483Arg | |
| XM_017009969.2:c.10447G>A | XP_016865458.1:p.Gly3483Arg | |
| XM_017009970.2:c.10447G>A | XP_016865459.1:p.Gly3483Arg | |
| XM_017009971.2:c.10447G>A | XP_016865460.1:p.Gly3483Arg | |
| XM_017009972.1:c.3565G>A | XP_016865461.1:p.Gly1189Arg | |
| XM_017009973.1:c.3544G>A | XP_016865462.1:p.Gly1182Arg | |
| XM_017009974.2:c.10447G>A | XP_016865463.1:p.Gly3483Arg | |
| XR_001742802.1:n.2522+11974C>T | ||
| NR_003149.2:n.10442G>A |