Linked Data
ClinVar Variation Id:
285497
ClinVar RCV Id:
RCV000401973
dbSNP Id:
rs886043120
gnomAD v2:
5-36976026-T-C
gnomAD v3:
5-36975924-T-C
gnomAD v4:
5-36975924-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36975924T>C , CM000667.2:g.36975924T>C | GRCh38 |
| NC_000005.9:g.36976026T>C , CM000667.1:g.36976026T>C | GRCh37 |
| NC_000005.8:g.37011783T>C | NCBI36 |
| NG_006987.1:g.104042T>C | |
| NG_006987.2:g.104042T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.1017T>C MANE Select | ENSP00000282516.8:p.Ser339= | |
| ENST00000652901.1:c.1017T>C | ENSP00000499536.1:p.Ser339= | |
| ENST00000282516.12:c.1017T>C | ENSP00000282516.8:p.Ser339= | |
| ENST00000448238.2:c.1017T>C | ENSP00000406266.2:p.Ser339= | |
| ENST00000504430.5:n.637T>C | ||
| ENST00000621733.1:c.1-88654T>C | ENSP00000480694.1:n.1-88654T>C | |
| NM_015384.4:c.1017T>C | NP_056199.2:p.Ser339= | |
| NM_133433.3:c.1017T>C | NP_597677.2:p.Ser339= | |
| XM_005248280.2:c.1017T>C | XP_005248337.1:p.Ser339= | |
| XM_005248282.3:c.273T>C | XP_005248339.2:p.Ser91= | |
| XM_006714467.2:c.1017T>C | XP_006714530.1:p.Ser339= | |
| XM_006714468.1:c.1017T>C | XP_006714531.1:p.Ser339= | |
| XM_011514014.1:c.1017T>C | XP_011512316.1:p.Ser339= | |
| XM_011514015.1:c.1017T>C | XP_011512317.1:p.Ser339= | |
| XM_005248280.3:c.1017T>C | XP_005248337.1:p.Ser339= | |
| XM_005248282.5:c.357T>C | XP_005248339.3:p.Ser119= | |
| XM_006714468.2:c.1017T>C | XP_006714531.1:p.Ser339= | |
| XM_017009329.1:c.1017T>C | XP_016864818.1:p.Ser339= | |
| XM_017009331.1:c.1017T>C | XP_016864820.1:p.Ser339= | |
| NM_133433.4:c.1017T>C MANE Select | NP_597677.2:p.Ser339= | |
| NM_015384.5:c.1017T>C | NP_056199.2:p.Ser339= |