Linked Data
ClinVar Variation Id:
1757228
ClinVar RCV Id:
RCV002367413
dbSNP Id:
rs1946779577
gnomAD v4:
12-40363484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363484C>T , CM000674.2:g.40363484C>T | GRCh38 |
| NC_000012.11:g.40757286C>T , CM000674.1:g.40757286C>T | GRCh37 |
| NC_000012.10:g.39043553C>T | NCBI36 |
| NG_011709.1:g.143474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7111C>T MANE Select | ENSP00000298910.7:p.Pro2371Ser | |
| ENST00000636518.1:c.908C>T | ||
| ENST00000679360.1:c.*6020C>T | ENSP00000505368.1:n.*6020C>T | |
| ENST00000679532.1:c.2885C>T | ||
| ENST00000679683.1:c.901C>T | ||
| ENST00000680018.1:c.2556C>T | ENSP00000505347.1:n.2556C>T | |
| ENST00000680422.1:c.4198C>T | ||
| ENST00000680425.1:c.2278C>T | ENSP00000506459.1:n.2278C>T | |
| ENST00000680453.1:c.2568C>T | ||
| ENST00000680790.1:c.6856C>T | ENSP00000505335.1:p.Pro2286Ser | |
| ENST00000681136.1:n.3095C>T | ||
| ENST00000681696.1:c.2794C>T | ENSP00000505871.1:p.Pro932Ser | |
| ENST00000681773.1:n.318C>T | ||
| ENST00000298910.11:c.7111C>T | ENSP00000298910.7:p.Pro2371Ser | |
| ENST00000430804.5:c.4407C>T | ||
| ENST00000479187.5:n.3792C>T | ||
| NM_198578.3:c.7111C>T | NP_940980.3:p.Pro2371Ser | |
| XM_005268629.2:c.7111C>T | XP_005268686.1:p.Pro2371Ser | |
| XM_011537877.1:c.7111C>T | XP_011536179.1:p.Pro2371Ser | |
| XM_011537879.1:c.5908C>T | XP_011536181.1:p.Pro1970Ser | |
| XR_944868.1:n.485-8657G>A | ||
| XM_005268629.4:c.7111C>T | XP_005268686.1:p.Pro2371Ser | |
| XM_011537877.3:c.7111C>T | XP_011536179.1:p.Pro2371Ser | |
| XM_017018787.1:c.4027C>T | XP_016874276.1:p.Pro1343Ser | |
| XM_017018788.2:c.3373C>T | XP_016874277.1:p.Pro1125Ser | |
| XM_024448833.1:c.5908C>T | XP_024304601.1:p.Pro1970Ser | |
| XR_944868.2:n.485-8657G>A | ||
| NM_198578.4:c.7111C>T MANE Select | NP_940980.4:p.Pro2371Ser |