Linked Data
ClinVar Variation Id:
2886084
ClinVar RCV Id:
RCV003719749
dbSNP Id:
rs111563366
ExAC:
8:134145885 G / A
gnomAD v2:
8-134145885-G-A
gnomAD v3:
8-133133641-G-A
gnomAD v4:
8-133133641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133641G>A , CM000670.2:g.133133641G>A | GRCh38 |
| NC_000008.10:g.134145885G>A , CM000670.1:g.134145885G>A | GRCh37 |
| NC_000008.9:g.134215067G>A | NCBI36 |
| NG_015832.1:g.271681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8169G>A MANE Select | ENSP00000220616.4:p.Ser2723= | |
| ENST00000220616.8:c.8169G>A | ENSP00000220616.4:p.Ser2723= | |
| ENST00000519178.5:c.3535G>A | ||
| ENST00000519543.5:c.2568G>A | ENSP00000430430.1:p.Ser856= | |
| ENST00000521107.1:c.381G>A | ENSP00000430161.1:p.Ser127= | |
| ENST00000522691.1:n.255G>A | ||
| ENST00000523756.5:c.4824G>A | ||
| NM_003235.4:c.8169G>A | NP_003226.4:p.Ser2723= | |
| XM_005251038.3:c.7977G>A | XP_005251095.1:p.Ser2659= | |
| XM_006716622.2:c.8106G>A | XP_006716685.1:p.Ser2702= | |
| XM_005251038.4:c.7977G>A | XP_005251095.1:p.Ser2659= | |
| XM_006716622.3:c.8106G>A | XP_006716685.1:p.Ser2702= | |
| XM_017013793.1:c.8103G>A | XP_016869282.1:p.Ser2701= | |
| XM_017013794.1:c.8034G>A | XP_016869283.1:p.Ser2678= | |
| XM_017013795.1:c.7998G>A | XP_016869284.1:p.Ser2666= | |
| XM_017013796.1:c.7950G>A | XP_016869285.1:p.Ser2650= | |
| XM_017013797.1:c.7908G>A | XP_016869286.1:p.Ser2636= | |
| NM_003235.5:c.8169G>A MANE Select | NP_003226.4:p.Ser2723= |