Linked Data
ClinVar Variation Id:
367679
dbSNP Id:
rs762619509
ExAC:
9:98997795 G / A
gnomAD v2:
9-98997795-G-A
gnomAD v3:
9-96235513-G-A
gnomAD v4:
9-96235513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235513G>A , CM000671.2:g.96235513G>A | GRCh38 |
| NC_000009.11:g.98997795G>A , CM000671.1:g.98997795G>A | GRCh37 |
| NC_000009.10:g.98037616G>A | NCBI36 |
| NG_008157.1:g.71640C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.730C>T | ENSP00000364411.2:p.Leu244= | |
| ENST00000375263.8:c.880C>T MANE Select | ENSP00000364412.3:p.Leu294= | |
| ENST00000463517.2:n.2422C>T | ||
| ENST00000464104.6:n.1818C>T | ||
| ENST00000467499.6:c.*579C>T | ENSP00000498077.1:n.*579C>T | |
| ENST00000494814.6:n.430C>T | ||
| ENST00000643789.1:c.3172C>T | ||
| ENST00000648146.1:c.1018C>T | ENSP00000497238.1:n.1018C>T | |
| ENST00000648332.1:c.557C>T | ENSP00000497562.1:n.557C>T | |
| ENST00000650005.1:c.809C>T | ENSP00000498121.1:n.809C>T | |
| ENST00000375262.3:c.730C>T | ENSP00000364411.2:p.Leu244= | |
| ENST00000375263.7:c.880C>T | ENSP00000364412.3:p.Leu294= | |
| ENST00000464104.5:n.733C>T | ||
| ENST00000467499.5:n.140C>T | ||
| ENST00000494814.5:n.439C>T | ||
| NM_000197.1:c.880C>T | NP_000188.1:p.Leu294= | |
| XM_005251970.3:c.520C>T | XP_005252027.1:p.Leu174= | |
| XM_011518618.1:c.880C>T | XP_011516920.1:p.Leu294= | |
| XM_011518619.1:c.880C>T | XP_011516921.1:p.Leu294= | |
| XM_011518620.1:c.772C>T | XP_011516922.1:p.Leu258= | |
| NM_000197.2:c.880C>T MANE Select | NP_000188.1:p.Leu294= | |
| XM_011518618.2:c.880C>T | XP_011516920.1:p.Leu294= | |
| XM_011518619.2:c.880C>T | XP_011516921.1:p.Leu294= | |
| XM_017014671.1:c.880C>T | XP_016870160.1:p.Leu294= | |
| XM_017014672.1:c.880C>T | XP_016870161.1:p.Leu294= | |
| XM_017014673.2:c.844C>T | XP_016870162.1:p.Leu282= | |
| XM_017014674.1:c.772C>T | XP_016870163.1:p.Leu258= | |
| XM_017014675.1:c.718C>T | XP_016870164.1:p.Leu240= | |
| XM_017014677.1:c.520C>T | XP_016870166.1:p.Leu174= | |
| XM_024447529.1:c.718C>T | XP_024303297.1:p.Leu240= | |
| XR_002956778.1:n.3352C>T |