Linked Data
ClinVar Variation Id:
2690049
ClinVar RCV Id:
RCV003493165
dbSNP Id:
rs771531874
ExAC:
12:50480019 C / T
gnomAD v2:
12-50480019-C-T
gnomAD v4:
12-50086236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50086236C>T , CM000674.2:g.50086236C>T | GRCh38 |
| NC_000012.11:g.50480019C>T , CM000674.1:g.50480019C>T | GRCh37 |
| NC_000012.10:g.48766286C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394963.9:c.253C>T MANE Select | ENSP00000378414.4:p.Pro85Ser | |
| ENST00000381513.8:c.253C>T | ENSP00000370924.4:p.Pro85Ser | |
| ENST00000394963.8:c.253C>T | ENSP00000378414.4:p.Pro85Ser | |
| ENST00000547247.5:n.281C>T | ||
| ENST00000547637.1:n.270C>T | ||
| ENST00000550477.5:c.253C>T | ENSP00000448030.1:p.Pro85Ser | |
| ENST00000551497.1:c.67C>T | ENSP00000449825.1:p.Pro23Ser | |
| ENST00000551966.5:c.253C>T | ENSP00000447386.1:p.Pro85Ser | |
| NM_003076.4:c.253C>T | NP_003067.3:p.Pro85Ser | |
| NM_139071.2:c.253C>T | NP_620710.2:p.Pro85Ser | |
| XM_005269107.3:c.253C>T | XP_005269164.2:p.Pro85Ser | |
| XM_011538695.1:c.253C>T | XP_011536997.1:p.Pro85Ser | |
| XR_944683.1:n.423C>T | ||
| XR_944684.1:n.423C>T | ||
| XM_005269107.4:c.253C>T | XP_005269164.2:p.Pro85Ser | |
| XM_011538695.2:c.253C>T | XP_011536997.1:p.Pro85Ser | |
| XR_944683.2:n.387C>T | ||
| XR_944684.2:n.387C>T | ||
| NM_003076.5:c.253C>T MANE Select | NP_003067.3:p.Pro85Ser | |
| NM_139071.3:c.253C>T | NP_620710.2:p.Pro85Ser |