Linked Data
ClinVar Variation Id:
912336
ClinVar RCV Id:
RCV001165498
dbSNP Id:
rs1554691418
ExAC:
9:98997741 G / A
gnomAD v2:
9-98997741-G-A
gnomAD v3:
9-96235459-G-A
gnomAD v4:
9-96235459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235459G>A , CM000671.2:g.96235459G>A | GRCh38 |
| NC_000009.11:g.98997741G>A , CM000671.1:g.98997741G>A | GRCh37 |
| NC_000009.10:g.98037562G>A | NCBI36 |
| NG_008157.1:g.71694C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375263.8:c.*1C>T MANE Select | ENSP00000364412.3:n.*1C>T | |
| ENST00000463517.2:n.2476C>T | ||
| ENST00000464104.6:n.1872C>T | ||
| ENST00000467499.6:c.*633C>T | ENSP00000498077.1:n.*633C>T | |
| ENST00000494814.6:n.484C>T | ||
| ENST00000643789.1:c.3226C>T | ||
| ENST00000375262.3:c.*1C>T | ENSP00000364411.2:n.*1C>T | |
| ENST00000375263.7:c.*1C>T | ENSP00000364412.3:n.*1C>T | |
| ENST00000464104.5:n.787C>T | ||
| ENST00000467499.5:n.194C>T | ||
| ENST00000494814.5:n.493C>T | ||
| NM_000197.1:c.*1C>T | NP_000188.1:n.*1C>T | |
| XM_005251970.3:c.*1C>T | XP_005252027.1:n.*1C>T | |
| XM_011518618.1:c.*1C>T | XP_011516920.1:n.*1C>T | |
| XM_011518619.1:c.*1C>T | XP_011516921.1:n.*1C>T | |
| XM_011518620.1:c.*1C>T | XP_011516922.1:n.*1C>T | |
| NM_000197.2:c.*1C>T MANE Select | NP_000188.1:n.*1C>T | |
| XM_011518618.2:c.*1C>T | XP_011516920.1:n.*1C>T | |
| XM_011518619.2:c.*1C>T | XP_011516921.1:n.*1C>T | |
| XM_017014671.1:c.*1C>T | XP_016870160.1:n.*1C>T | |
| XM_017014672.1:c.*1C>T | XP_016870161.1:n.*1C>T | |
| XM_017014673.2:c.*1C>T | XP_016870162.1:n.*1C>T | |
| XM_017014674.1:c.*1C>T | XP_016870163.1:n.*1C>T | |
| XM_017014675.1:c.*1C>T | XP_016870164.1:n.*1C>T | |
| XM_017014677.1:c.*1C>T | XP_016870166.1:n.*1C>T | |
| XM_024447529.1:c.*1C>T | XP_024303297.1:n.*1C>T | |
| XR_002956778.1:n.3406C>T |