Linked Data
ClinVar Variation Id:
1332149
ClinVar RCV Id:
RCV001804665
dbSNP Id:
rs944599279
gnomAD v2:
2-47702192-T-A
gnomAD v4:
2-47475053-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47475053T>A , CM000664.2:g.47475053T>A | GRCh38 |
| NC_000002.11:g.47702192T>A , CM000664.1:g.47702192T>A | GRCh37 |
| NC_000002.10:g.47555696T>A | NCBI36 |
| NG_007110.2:g.76930T>A , LRG_218:g.76930T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1788T>A | ENSP00000495641.2:p.Asn596Lys | |
| ENST00000233146.7:c.1788T>A MANE Select | ENSP00000233146.2:p.Asn596Lys | |
| ENST00000543555.6:c.1590T>A | ENSP00000442697.1:p.Asn530Lys | |
| ENST00000644092.1:c.*88T>A | ENSP00000496351.1:n.*88T>A | |
| ENST00000645339.1:c.1788T>A | ENSP00000496441.1:p.Asn596Lys | |
| ENST00000645506.1:c.1788T>A | ENSP00000495455.1:p.Asn596Lys | |
| ENST00000646415.1:c.1788T>A | ENSP00000495543.1:p.Asn596Lys | |
| ENST00000233146.6:c.1788T>A | ENSP00000233146.2:p.Asn596Lys | |
| ENST00000406134.5:c.1788T>A | ENSP00000384199.1:p.Asn596Lys | |
| ENST00000543555.5:c.1590T>A | ENSP00000442697.1:p.Asn530Lys | |
| ENST00000610696.4:c.*184T>A | ENSP00000483159.1:n.*184T>A | |
| ENST00000613514.4:c.*328T>A | ENSP00000484137.1:n.*328T>A | |
| ENST00000617333.3:c.*554T>A | ENSP00000482468.1:n.*554T>A | |
| ENST00000617938.4:c.*760T>A | ENSP00000481158.1:n.*760T>A | |
| ENST00000621359.2:c.1788T>A | ENSP00000481416.1:p.Asn596Lys | |
| NM_000251.2:c.1788T>A , LRG_218t1:c.1788T>A | NP_000242.1:p.Asn596Lys | |
| NM_001258281.1:c.1590T>A | NP_001245210.1:p.Asn530Lys | |
| XM_005264332.2:c.1788T>A | XP_005264389.2:p.Asn596Lys | |
| XM_011532867.1:c.1788T>A | XP_011531169.1:p.Asn596Lys | |
| XR_939685.1:n.1860T>A | ||
| XM_005264332.4:c.1788T>A | XP_005264389.2:p.Asn596Lys | |
| XM_011532867.2:c.1788T>A | XP_011531169.1:p.Asn596Lys | |
| XR_001738747.2:n.1850T>A | ||
| XR_939685.2:n.1850T>A | ||
| NM_000251.3:c.1788T>A MANE Select | NP_000242.1:p.Asn596Lys |