Linked Data
ClinVar Variation Id:
1326013
ClinVar RCV Id:
RCV001786074
dbSNP Id:
rs2151306330
gnomAD v4:
16-3728974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728974G>A , CM000678.2:g.3728974G>A | GRCh38 |
| NC_000016.9:g.3778975G>A , CM000678.1:g.3778975G>A | GRCh37 |
| NC_000016.8:g.3718976G>A | NCBI36 |
| NG_009873.1:g.156147C>T | |
| NG_009873.2:g.156740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6073C>T MANE Select | ENSP00000262367.5:p.Pro2025Ser | |
| ENST00000262367.9:c.6073C>T | ENSP00000262367.5:p.Pro2025Ser | |
| ENST00000382070.7:c.5959C>T | ENSP00000371502.3:p.Pro1987Ser | |
| NM_001079846.1:c.5959C>T | NP_001073315.1:p.Pro1987Ser | |
| NM_004380.2:c.6073C>T | NP_004371.2:p.Pro2025Ser | |
| XM_005255124.3:c.6028C>T | XP_005255181.1:p.Pro2010Ser | |
| XM_005255125.3:c.5656C>T | XP_005255182.1:p.Pro1886Ser | |
| XM_006720848.2:c.5812C>T | XP_006720911.1:p.Pro1938Ser | |
| XM_011522380.1:c.6019C>T | XP_011520682.1:p.Pro2007Ser | |
| XM_011522381.1:c.5320C>T | XP_011520683.1:p.Pro1774Ser | |
| XM_005255124.4:c.6028C>T | XP_005255181.1:p.Pro2010Ser | |
| XM_005255125.4:c.5656C>T | XP_005255182.1:p.Pro1886Ser | |
| XM_006720848.3:c.5812C>T | XP_006720911.1:p.Pro1938Ser | |
| XM_011522381.2:c.5320C>T | XP_011520683.1:p.Pro1774Ser | |
| XM_017022944.1:c.6067C>T | XP_016878433.1:p.Pro2023Ser | |
| NM_004380.3:c.6073C>T MANE Select | NP_004371.2:p.Pro2025Ser |