Linked Data
ClinVar Variation Id:
367499
dbSNP Id:
rs372509332
ExAC:
9:94486586 G / A
gnomAD v2:
9-94486586-G-A
gnomAD v3:
9-91724304-G-A
gnomAD v4:
9-91724304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724304G>A , CM000671.2:g.91724304G>A | GRCh38 |
| NC_000009.11:g.94486586G>A , CM000671.1:g.94486586G>A | GRCh37 |
| NC_000009.10:g.93526407G>A | NCBI36 |
| NG_008089.1:g.230859C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2190C>T MANE Select | ENSP00000364860.3:p.Asn730= | |
| ENST00000375708.3:c.2190C>T | ENSP00000364860.3:p.Asn730= | |
| ENST00000375715.5:c.1770C>T | ENSP00000364867.1:p.Asn590= | |
| ENST00000550066.5:n.2658C>T | ||
| NM_004560.3:c.2190C>T | NP_004551.2:p.Asn730= | |
| XM_005252008.3:c.1770C>T | XP_005252065.1:p.Asn590= | |
| XM_005252009.3:c.987C>T | XP_005252066.1:p.Asn329= | |
| XM_006717121.2:c.1770C>T | XP_006717184.1:p.Asn590= | |
| XM_011518721.1:c.1770C>T | XP_011517023.1:p.Asn590= | |
| XM_005252008.4:c.1770C>T | XP_005252065.1:p.Asn590= | |
| XM_006717121.3:c.1770C>T | XP_006717184.1:p.Asn590= | |
| XM_017014762.1:c.2181C>T | XP_016870251.1:p.Asn727= | |
| XM_017014763.1:c.1770C>T | XP_016870252.1:p.Asn590= | |
| NM_004560.4:c.2190C>T MANE Select | NP_004551.2:p.Asn730= |