Linked Data
dbSNP Id:
rs777632120
ExAC:
9:99006643 C / T
gnomAD v2:
9-99006643-C-T
gnomAD v4:
9-96244361-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96244361C>T , CM000671.2:g.96244361C>T | GRCh38 |
| NC_000009.11:g.99006643C>T , CM000671.1:g.99006643C>T | GRCh37 |
| NC_000009.10:g.98046464C>T | NCBI36 |
| NG_008157.1:g.62792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.640G>A | ENSP00000364411.2:p.Glu214Lys | |
| ENST00000375263.8:c.640G>A MANE Select | ENSP00000364412.3:p.Glu214Lys | |
| ENST00000463517.2:n.2182G>A | ||
| ENST00000464104.6:n.1578G>A | ||
| ENST00000467499.6:c.*339G>A | ENSP00000498077.1:n.*339G>A | |
| ENST00000494814.6:n.152G>A | ||
| ENST00000643789.1:c.2932G>A | ||
| ENST00000648146.1:c.640G>A | ENSP00000497238.1:p.Glu214Lys | |
| ENST00000648332.1:c.317G>A | ENSP00000497562.1:p.Arg106Lys | |
| ENST00000648799.1:c.532G>A | ENSP00000498039.1:p.Glu178Lys | |
| ENST00000650005.1:c.569G>A | ENSP00000498121.1:p.Arg190Lys | |
| ENST00000375262.3:c.640G>A | ENSP00000364411.2:p.Glu214Lys | |
| ENST00000375263.7:c.640G>A | ENSP00000364412.3:p.Glu214Lys | |
| ENST00000464104.5:n.493G>A | ||
| ENST00000494814.5:n.161G>A | ||
| NM_000197.1:c.640G>A | NP_000188.1:p.Glu214Lys | |
| XM_005251970.3:c.280G>A | XP_005252027.1:p.Glu94Lys | |
| XM_011518618.1:c.640G>A | XP_011516920.1:p.Glu214Lys | |
| XM_011518619.1:c.640G>A | XP_011516921.1:p.Glu214Lys | |
| XM_011518620.1:c.532G>A | XP_011516922.1:p.Glu178Lys | |
| XM_011518621.1:c.640G>A | XP_011516923.1:p.Glu214Lys | |
| NM_000197.2:c.640G>A MANE Select | NP_000188.1:p.Glu214Lys | |
| XM_011518618.2:c.640G>A | XP_011516920.1:p.Glu214Lys | |
| XM_011518619.2:c.640G>A | XP_011516921.1:p.Glu214Lys | |
| XM_017014671.1:c.640G>A | XP_016870160.1:p.Glu214Lys | |
| XM_017014672.1:c.640G>A | XP_016870161.1:p.Glu214Lys | |
| XM_017014673.2:c.604G>A | XP_016870162.1:p.Glu202Lys | |
| XM_017014674.1:c.532G>A | XP_016870163.1:p.Glu178Lys | |
| XM_017014675.1:c.478G>A | XP_016870164.1:p.Glu160Lys | |
| XM_017014677.1:c.280G>A | XP_016870166.1:p.Glu94Lys | |
| XM_024447529.1:c.478G>A | XP_024303297.1:p.Glu160Lys | |
| XR_002956778.1:n.3074G>A |