Linked Data
ClinVar Variation Id:
983466
ClinVar RCV Id:
RCV001353136
dbSNP Id:
rs1489361512
COSMIC:
COSM4958336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724639G>T , CM000671.2:g.91724639G>T | GRCh38 |
| NC_000009.11:g.94486921G>T , CM000671.1:g.94486921G>T | GRCh37 |
| NC_000009.10:g.93526742G>T | NCBI36 |
| NG_008089.1:g.230524C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1855C>A MANE Select | ENSP00000364860.3:p.Arg619Ser | |
| ENST00000375708.3:c.1855C>A | ENSP00000364860.3:p.Arg619Ser | |
| ENST00000375715.5:c.1435C>A | ENSP00000364867.1:p.Arg479Ser | |
| ENST00000550066.5:n.2323C>A | ||
| NM_004560.3:c.1855C>A | NP_004551.2:p.Arg619Ser | |
| XM_005252008.3:c.1435C>A | XP_005252065.1:p.Arg479Ser | |
| XM_005252009.3:c.652C>A | XP_005252066.1:p.Arg218Ser | |
| XM_006717121.2:c.1435C>A | XP_006717184.1:p.Arg479Ser | |
| XM_011518721.1:c.1435C>A | XP_011517023.1:p.Arg479Ser | |
| XM_005252008.4:c.1435C>A | XP_005252065.1:p.Arg479Ser | |
| XM_006717121.3:c.1435C>A | XP_006717184.1:p.Arg479Ser | |
| XM_017014762.1:c.1846C>A | XP_016870251.1:p.Arg616Ser | |
| XM_017014763.1:c.1435C>A | XP_016870252.1:p.Arg479Ser | |
| NM_004560.4:c.1855C>A MANE Select | NP_004551.2:p.Arg619Ser |