Linked Data
ClinVar Variation Id:
265180
ClinVar RCV Id:
RCV000255549
RCV000764716
RCV001158783
RCV001158784
RCV001158785
RCV003765568
RCV004021025
dbSNP Id:
rs376725882
ExAC:
7:42187951 C / T
gnomAD v2:
7-42187951-C-T
gnomAD v3:
7-42148352-C-T
gnomAD v4:
7-42148352-C-T
COSMIC:
COSM1313082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42148352C>T , CM000669.2:g.42148352C>T | GRCh38 |
| NC_000007.13:g.42187951C>T , CM000669.1:g.42187951C>T | GRCh37 |
| NC_000007.12:g.42154476C>T | NCBI36 |
| NG_008434.1:g.93668G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.241G>A MANE Select | ENSP00000379258.3:p.Glu81Lys | |
| ENST00000642432.1:c.64G>A | ENSP00000495498.1:p.Glu22Lys | |
| ENST00000643264.1:c.64G>A | ENSP00000495207.1:p.Glu22Lys | |
| ENST00000647255.1:c.64G>A | ENSP00000495745.1:p.Glu22Lys | |
| ENST00000677288.1:c.64G>A | ENSP00000503986.1:p.Glu22Lys | |
| ENST00000677605.1:c.241G>A | ENSP00000503743.1:p.Glu81Lys | |
| ENST00000678429.1:c.241G>A | ENSP00000502957.1:p.Glu81Lys | |
| ENST00000395925.7:c.241G>A | ENSP00000379258.3:p.Glu81Lys | |
| ENST00000448703.5:c.241G>A | ENSP00000406135.1:p.Glu81Lys | |
| ENST00000479210.1:n.218G>A | ||
| NM_000168.5:c.241G>A | NP_000159.3:p.Glu81Lys | |
| XM_005249703.1:c.241G>A | XP_005249760.1:p.Glu81Lys | |
| XM_005249704.2:c.241G>A | XP_005249761.1:p.Glu81Lys | |
| XM_011515272.1:c.241G>A | XP_011513574.1:p.Glu81Lys | |
| XM_011515273.1:c.241G>A | XP_011513575.1:p.Glu81Lys | |
| XM_011515274.1:c.64G>A | XP_011513576.1:p.Glu22Lys | |
| XM_011515274.2:c.64G>A | XP_011513576.1:p.Glu22Lys | |
| XM_017011997.1:c.238G>A | XP_016867486.1:p.Glu80Lys | |
| NM_000168.6:c.241G>A MANE Select | NP_000159.3:p.Glu81Lys |