Linked Data
ClinVar Variation Id:
2803982
ClinVar RCV Id:
RCV003681808
gnomAD v4:
8-133133545-T-C
MyVariant Identifiers:
chr8:g.134145789T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133545T>C , CM000670.2:g.133133545T>C | GRCh38 |
| NC_000008.10:g.134145789T>C , CM000670.1:g.134145789T>C | GRCh37 |
| NC_000008.9:g.134214971T>C | NCBI36 |
| NG_015832.1:g.271585T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8073T>C MANE Select | ENSP00000220616.4:p.Arg2691= | |
| ENST00000220616.8:c.8073T>C | ENSP00000220616.4:p.Arg2691= | |
| ENST00000519178.5:c.3439T>C | ||
| ENST00000519543.5:c.2472T>C | ENSP00000430430.1:p.Arg824= | |
| ENST00000521107.1:c.285T>C | ENSP00000430161.1:p.Arg95= | |
| ENST00000522691.1:n.159T>C | ||
| ENST00000523756.5:c.4728T>C | ||
| NM_003235.4:c.8073T>C | NP_003226.4:p.Arg2691= | |
| XM_005251038.3:c.7881T>C | XP_005251095.1:p.Arg2627= | |
| XM_006716622.2:c.8010T>C | XP_006716685.1:p.Arg2670= | |
| XM_005251038.4:c.7881T>C | XP_005251095.1:p.Arg2627= | |
| XM_006716622.3:c.8010T>C | XP_006716685.1:p.Arg2670= | |
| XM_017013793.1:c.8007T>C | XP_016869282.1:p.Arg2669= | |
| XM_017013794.1:c.7938T>C | XP_016869283.1:p.Arg2646= | |
| XM_017013795.1:c.7902T>C | XP_016869284.1:p.Arg2634= | |
| XM_017013796.1:c.7854T>C | XP_016869285.1:p.Arg2618= | |
| XM_017013797.1:c.7812T>C | XP_016869286.1:p.Arg2604= | |
| NM_003235.5:c.8073T>C MANE Select | NP_003226.4:p.Arg2691= |