Linked Data
ClinVar Variation Id:
2338098
ClinVar RCV Id:
RCV002936138
dbSNP Id:
rs1175531436
gnomAD v2:
21-47685956-G-A
gnomAD v3:
21-46266042-G-A
gnomAD v4:
21-46266042-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46266042G>A , CM000683.2:g.46266042G>A | GRCh38 |
| NC_000021.8:g.47685956G>A , CM000683.1:g.47685956G>A | GRCh37 |
| NC_000021.7:g.46510384G>A | NCBI36 |
| NG_033881.1:g.24281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291688.6:c.2914C>T MANE Select | ENSP00000291688.1:p.Pro972Ser | |
| ENST00000291688.5:c.2914C>T | ENSP00000291688.1:p.Pro972Ser | |
| ENST00000397708.1:c.2914C>T | ENSP00000380820.1:p.Pro972Ser | |
| ENST00000486937.5:n.1206C>T | ||
| ENST00000496607.5:n.911C>T | ||
| NM_003906.4:c.2914C>T | NP_003897.2:p.Pro972Ser | |
| XM_005261203.3:c.2914C>T | XP_005261260.1:p.Pro972Ser | |
| XM_005261204.3:c.2914C>T | XP_005261261.1:p.Pro972Ser | |
| XM_005261205.2:c.2914C>T | XP_005261262.1:p.Pro972Ser | |
| XM_005261206.3:c.2914C>T | XP_005261263.1:p.Pro972Ser | |
| XM_006724064.2:c.2914C>T | XP_006724127.1:p.Pro972Ser | |
| XR_937577.1:n.3503C>T | ||
| XM_005261203.4:c.2914C>T | XP_005261260.1:p.Pro972Ser | |
| XM_005261204.5:c.2914C>T | XP_005261261.1:p.Pro972Ser | |
| XM_005261205.4:c.2914C>T | XP_005261262.1:p.Pro972Ser | |
| NM_003906.5:c.2914C>T MANE Select | NP_003897.2:p.Pro972Ser |