Linked Data
ClinVar Variation Id:
474187
dbSNP Id:
rs113361507
ExAC:
8:42977973 G / A
gnomAD v2:
8-42977973-G-A
gnomAD v3:
8-43122830-G-A
gnomAD v4:
8-43122830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122830G>A , CM000670.2:g.43122830G>A | GRCh38 |
| NC_000008.10:g.42977973G>A , CM000670.1:g.42977973G>A | GRCh37 |
| NC_000008.9:g.43097130G>A | NCBI36 |
| NG_033235.1:g.34325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.1006G>A MANE Select | ENSP00000331258.5:p.Asp336Asn | |
| ENST00000614426.2:c.*802G>A | ENSP00000478821.2:n.*802G>A | |
| ENST00000674646.1:c.724G>A | ENSP00000501703.1:p.Asp242Asn | |
| ENST00000674676.1:c.724G>A | ENSP00000502544.1:p.Asp242Asn | |
| ENST00000674782.1:c.*926G>A | ENSP00000501683.1:n.*926G>A | |
| ENST00000674937.1:c.964G>A | ENSP00000501823.1:p.Asp322Asn | |
| ENST00000675322.1:c.724G>A | ENSP00000502235.1:p.Asp242Asn | |
| ENST00000675675.1:c.724G>A | ENSP00000501793.1:p.Asp242Asn | |
| ENST00000676178.1:c.*791G>A | ENSP00000502007.1:n.*791G>A | |
| ENST00000676193.1:c.1006G>A | ENSP00000502774.1:p.Asp336Asn | |
| ENST00000331373.9:c.1006G>A | ENSP00000331258.5:p.Asp336Asn | |
| ENST00000614426.1:c.1006G>A | ENSP00000478821.1:p.Asp336Asn | |
| NM_001277971.1:c.1006G>A | NP_001264900.1:p.Asp336Asn | |
| NM_032237.4:c.1006G>A | NP_115613.1:p.Asp336Asn | |
| XM_011544668.1:c.1006G>A | XP_011542970.1:p.Asp336Asn | |
| XM_011544669.1:c.1006G>A | XP_011542971.1:p.Asp336Asn | |
| NM_032237.5:c.1006G>A MANE Select | NP_115613.1:p.Asp336Asn | |
| NM_001277971.2:c.1006G>A | NP_001264900.1:p.Asp336Asn |