Linked Data
ClinVar Variation Id:
282760
dbSNP Id:
rs56099091
ExAC:
9:94487106 G / A
gnomAD v2:
9-94487106-G-A
gnomAD v3:
9-91724824-G-A
gnomAD v4:
9-91724824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724824G>A , CM000671.2:g.91724824G>A | GRCh38 |
| NC_000009.11:g.94487106G>A , CM000671.1:g.94487106G>A | GRCh37 |
| NC_000009.10:g.93526927G>A | NCBI36 |
| NG_008089.1:g.230339C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1670C>T MANE Select | ENSP00000364860.3:p.Ser557Leu | |
| ENST00000375708.3:c.1670C>T | ENSP00000364860.3:p.Ser557Leu | |
| ENST00000375715.5:c.1250C>T | ENSP00000364867.1:p.Ser417Leu | |
| ENST00000550066.5:n.2138C>T | ||
| NM_004560.3:c.1670C>T | NP_004551.2:p.Ser557Leu | |
| XM_005252008.3:c.1250C>T | XP_005252065.1:p.Ser417Leu | |
| XM_005252009.3:c.467C>T | XP_005252066.1:p.Ser156Leu | |
| XM_006717121.2:c.1250C>T | XP_006717184.1:p.Ser417Leu | |
| XM_011518721.1:c.1250C>T | XP_011517023.1:p.Ser417Leu | |
| XM_005252008.4:c.1250C>T | XP_005252065.1:p.Ser417Leu | |
| XM_006717121.3:c.1250C>T | XP_006717184.1:p.Ser417Leu | |
| XM_017014762.1:c.1661C>T | XP_016870251.1:p.Ser554Leu | |
| XM_017014763.1:c.1250C>T | XP_016870252.1:p.Ser417Leu | |
| NM_004560.4:c.1670C>T MANE Select | NP_004551.2:p.Ser557Leu |