Linked Data
ClinVar Variation Id:
3129915
ClinVar RCV Id:
RCV004418260
dbSNP Id:
rs1020921571
gnomAD v2:
2-44102309-T-A
gnomAD v4:
2-43875170-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875170T>A , CM000664.2:g.43875170T>A | GRCh38 |
| NC_000002.11:g.44102309T>A , CM000664.1:g.44102309T>A | GRCh37 |
| NC_000002.10:g.43955813T>A | NCBI36 |
| NG_008884.1:g.41207T>A | |
| NG_008884.2:g.48229T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1513T>A MANE Select | ENSP00000272286.2:p.Cys505Ser | |
| ENST00000272286.2:c.1513T>A | ENSP00000272286.2:p.Cys505Ser | |
| NM_022437.2:c.1513T>A | NP_071882.1:p.Cys505Ser | |
| XM_005264483.2:c.1510T>A | XP_005264540.1:p.Cys504Ser | |
| XM_011533029.1:c.1525T>A | XP_011531331.1:p.Cys509Ser | |
| XM_011533030.1:c.1522T>A | XP_011531332.1:p.Cys508Ser | |
| XM_011533031.1:c.1297T>A | XP_011531333.1:p.Cys433Ser | |
| XR_939707.1:n.2015T>A | ||
| NM_001357321.1:c.1510T>A | NP_001344250.1:p.Cys504Ser | |
| XM_011533029.2:c.1525T>A | XP_011531331.1:p.Cys509Ser | |
| XM_011533030.2:c.1522T>A | XP_011531332.1:p.Cys508Ser | |
| XR_001738891.1:n.2029T>A | ||
| XR_939707.2:n.2029T>A | ||
| NM_022437.3:c.1513T>A MANE Select | NP_071882.1:p.Cys505Ser | |
| NM_001357321.2:c.1510T>A | NP_001344250.1:p.Cys504Ser |