Linked Data
ClinVar Variation Id:
199096
dbSNP Id:
rs141235720
ExAC:
9:94486381 G / A
gnomAD v2:
9-94486381-G-A
gnomAD v3:
9-91724099-G-A
gnomAD v4:
9-91724099-G-A
COSMIC:
COSM48755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724099G>A , CM000671.2:g.91724099G>A | GRCh38 |
| NC_000009.11:g.94486381G>A , CM000671.1:g.94486381G>A | GRCh37 |
| NC_000009.10:g.93526202G>A | NCBI36 |
| NG_008089.1:g.231064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2395C>T MANE Select | ENSP00000364860.3:p.Pro799Ser | |
| ENST00000375708.3:c.2395C>T | ENSP00000364860.3:p.Pro799Ser | |
| ENST00000375715.5:c.1920+55C>T | ENSP00000364867.1:n.1920+55C>T | |
| ENST00000550066.5:n.2863C>T | ||
| NM_004560.3:c.2395C>T | NP_004551.2:p.Pro799Ser | |
| XM_005252008.3:c.1975C>T | XP_005252065.1:p.Pro659Ser | |
| XM_005252009.3:c.1192C>T | XP_005252066.1:p.Pro398Ser | |
| XM_006717121.2:c.1975C>T | XP_006717184.1:p.Pro659Ser | |
| XM_011518721.1:c.1975C>T | XP_011517023.1:p.Pro659Ser | |
| XM_005252008.4:c.1975C>T | XP_005252065.1:p.Pro659Ser | |
| XM_006717121.3:c.1975C>T | XP_006717184.1:p.Pro659Ser | |
| XM_017014762.1:c.2386C>T | XP_016870251.1:p.Pro796Ser | |
| XM_017014763.1:c.1975C>T | XP_016870252.1:p.Pro659Ser | |
| NM_004560.4:c.2395C>T MANE Select | NP_004551.2:p.Pro799Ser |