Linked Data
ClinVar Variation Id:
2100891
ClinVar RCV Id:
RCV003025994
dbSNP Id:
rs1726069527
gnomAD v3:
4-118738356-G-A
gnomAD v4:
4-118738356-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118738356G>A , CM000666.2:g.118738356G>A | GRCh38 |
| NC_000004.11:g.119659511G>A , CM000666.1:g.119659511G>A | GRCh37 |
| NC_000004.10:g.119878959G>A | NCBI36 |
| NG_042032.1:g.102816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2401C>T MANE Select | ENSP00000280551.6:p.Pro801Ser | |
| ENST00000280551.10:c.2401C>T | ENSP00000280551.6:p.Pro801Ser | |
| ENST00000419654.6:c.1069C>T | ENSP00000388324.2:p.Pro357Ser | |
| ENST00000502526.1:n.99C>T | ||
| ENST00000505134.5:n.1689C>T | ||
| ENST00000511481.5:c.1294C>T | ENSP00000425491.1:p.Pro432Ser | |
| ENST00000514561.5:c.*2808C>T | ENSP00000422717.1:n.*2808C>T | |
| NM_014822.2:c.2401C>T | NP_055637.2:p.Pro801Ser | |
| XM_005263378.1:c.2404C>T | XP_005263435.1:p.Pro802Ser | |
| XM_005263379.1:c.2404C>T | XP_005263436.1:p.Pro802Ser | |
| XM_011532435.1:c.2404C>T | XP_011530737.1:p.Pro802Ser | |
| XM_011532436.1:c.2404C>T | XP_011530738.1:p.Pro802Ser | |
| XM_011532437.1:c.1069C>T | XP_011530739.1:p.Pro357Ser | |
| NM_001318066.1:c.2404C>T | NP_001304995.1:p.Pro802Ser | |
| NM_014822.3:c.2401C>T | NP_055637.2:p.Pro801Ser | |
| XM_005263379.3:c.2404C>T | XP_005263436.1:p.Pro802Ser | |
| XM_017008875.1:c.1069C>T | XP_016864364.1:p.Pro357Ser | |
| XM_024454293.1:c.2401C>T | XP_024310061.1:p.Pro801Ser | |
| NM_014822.4:c.2401C>T MANE Select | NP_055637.2:p.Pro801Ser | |
| NM_001318066.2:c.2404C>T | NP_001304995.1:p.Pro802Ser |