Linked Data
ClinVar Variation Id:
2900585
ClinVar RCV Id:
RCV003737215
dbSNP Id:
rs745612969
ExAC:
8:134145774 T / C
gnomAD v2:
8-134145774-T-C
gnomAD v3:
8-133133530-T-C
gnomAD v4:
8-133133530-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133530T>C , CM000670.2:g.133133530T>C | GRCh38 |
| NC_000008.10:g.134145774T>C , CM000670.1:g.134145774T>C | GRCh37 |
| NC_000008.9:g.134214956T>C | NCBI36 |
| NG_015832.1:g.271570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8058T>C MANE Select | ENSP00000220616.4:p.Pro2686= | |
| ENST00000220616.8:c.8058T>C | ENSP00000220616.4:p.Pro2686= | |
| ENST00000519178.5:c.3424T>C | ||
| ENST00000519543.5:c.2457T>C | ENSP00000430430.1:p.Pro819= | |
| ENST00000521107.1:c.270T>C | ENSP00000430161.1:p.Pro90= | |
| ENST00000522691.1:n.144T>C | ||
| ENST00000523756.5:c.4713T>C | ||
| NM_003235.4:c.8058T>C | NP_003226.4:p.Pro2686= | |
| XM_005251038.3:c.7866T>C | XP_005251095.1:p.Pro2622= | |
| XM_006716622.2:c.7995T>C | XP_006716685.1:p.Pro2665= | |
| XM_005251038.4:c.7866T>C | XP_005251095.1:p.Pro2622= | |
| XM_006716622.3:c.7995T>C | XP_006716685.1:p.Pro2665= | |
| XM_017013793.1:c.7992T>C | XP_016869282.1:p.Pro2664= | |
| XM_017013794.1:c.7923T>C | XP_016869283.1:p.Pro2641= | |
| XM_017013795.1:c.7887T>C | XP_016869284.1:p.Pro2629= | |
| XM_017013796.1:c.7839T>C | XP_016869285.1:p.Pro2613= | |
| XM_017013797.1:c.7797T>C | XP_016869286.1:p.Pro2599= | |
| NM_003235.5:c.8058T>C MANE Select | NP_003226.4:p.Pro2686= |