Linked Data
ClinVar Variation Id:
2930271
ClinVar RCV Id:
RCV003787629
dbSNP Id:
rs1219870817
gnomAD v2:
10-104263979-C-A
gnomAD v4:
10-102504222-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102504222C>A , CM000672.2:g.102504222C>A | GRCh38 |
| NC_000010.10:g.104263979C>A , CM000672.1:g.104263979C>A | GRCh37 |
| NC_000010.9:g.104253969C>A | NCBI36 |
| NG_011901.1:g.3534G>T | |
| NG_021338.1:g.5261C>A , LRG_521:g.5261C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369902.8:c.70C>A MANE Select | ENSP00000358918.4:p.Pro24Thr | |
| ENST00000369899.6:c.70C>A | ENSP00000358915.2:p.Pro24Thr | |
| ENST00000369902.7:c.70C>A | ENSP00000358918.3:p.Pro24Thr | |
| ENST00000423559.2:c.70C>A | ENSP00000411597.2:p.Pro24Thr | |
| NM_001178133.1:c.70C>A | NP_001171604.1:p.Pro24Thr | |
| NM_016169.3:c.70C>A , LRG_521t1:c.70C>A | NP_057253.2:p.Pro24Thr | |
| XM_011539858.1:c.70C>A | XP_011538160.1:p.Pro24Thr | |
| XM_011539859.1:c.70C>A | XP_011538161.1:p.Pro24Thr | |
| XM_011539860.1:c.70C>A | XP_011538162.1:p.Pro24Thr | |
| XM_011539861.1:c.70C>A | XP_011538163.1:p.Pro24Thr | |
| XM_011539863.1:c.8+1236C>A | XP_011538165.1:n.8+1236C>A | |
| XM_011539864.1:c.70C>A | XP_011538166.1:p.Pro24Thr | |
| XM_011539858.3:c.70C>A | XP_011538160.1:p.Pro24Thr | |
| XM_011539860.3:c.70C>A | XP_011538162.1:p.Pro24Thr | |
| XM_011539861.3:c.70C>A | XP_011538163.1:p.Pro24Thr | |
| XM_011539863.3:c.8+1236C>A | XP_011538165.1:n.8+1236C>A | |
| XM_011539864.3:c.70C>A | XP_011538166.1:p.Pro24Thr | |
| NM_001178133.2:c.70C>A | NP_001171604.1:p.Pro24Thr | |
| NM_016169.4:c.70C>A MANE Select | NP_057253.2:p.Pro24Thr |