Linked Data
ClinVar Variation Id:
3128740
ClinVar RCV Id:
RCV004422624
dbSNP Id:
rs1433654355
gnomAD v3:
1-161048284-A-T
gnomAD v4:
1-161048284-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161048284A>T , CM000663.2:g.161048284A>T | GRCh38 |
| NC_000001.10:g.161018074A>T , CM000663.1:g.161018074A>T | GRCh37 |
| NC_000001.9:g.159284698A>T | NCBI36 |
| NG_011612.1:g.2684T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368013.8:c.2737T>A MANE Select | ENSP00000356992.3:p.Cys913Ser | |
| ENST00000368013.7:c.2737T>A | ENSP00000356992.3:p.Cys913Ser | |
| ENST00000368015.1:c.2206T>A | ENSP00000356994.1:p.Cys736Ser | |
| ENST00000368016.7:c.2104T>A | ENSP00000356995.3:p.Cys702Ser | |
| ENST00000461003.5:n.3519T>A | ||
| NM_001025598.1:c.2737T>A | NP_001020769.1:p.Cys913Ser | |
| NM_001287600.1:c.2293T>A | NP_001274529.1:p.Cys765Ser | |
| NM_001287602.1:c.2206T>A | NP_001274531.1:p.Cys736Ser | |
| NM_181720.2:c.2104T>A | NP_859071.2:p.Cys702Ser | |
| XM_005245070.2:c.2566T>A | XP_005245127.1:p.Cys856Ser | |
| XM_005245071.3:c.2293T>A | XP_005245128.1:p.Cys765Ser | |
| XM_005245073.2:c.2293T>A | XP_005245130.1:p.Cys765Ser | |
| XM_011509391.1:c.2293T>A | XP_011507693.1:p.Cys765Ser | |
| XM_005245073.3:c.2293T>A | XP_005245130.1:p.Cys765Ser | |
| XM_011509391.2:c.2293T>A | XP_011507693.1:p.Cys765Ser | |
| XM_017000960.1:c.2335T>A | XP_016856449.1:p.Cys779Ser | |
| NM_001025598.2:c.2737T>A MANE Select | NP_001020769.1:p.Cys913Ser | |
| NM_001287600.2:c.2293T>A | NP_001274529.1:p.Cys765Ser | |
| NM_001287602.2:c.2206T>A | NP_001274531.1:p.Cys736Ser | |
| NM_181720.3:c.2104T>A | NP_859071.2:p.Cys702Ser |