Linked Data
ClinVar Variation Id:
7894
ClinVar RCV Id:
RCV000008348
RCV000008350
RCV000085549
RCV000505109
RCV000763046
RCV000778259
RCV000787493
RCV000787494
RCV000787495
RCV001000014
RCV001196125
RCV003407303
dbSNP Id:
rs61751374
ExAC:
1:94508969 G / A
gnomAD v2:
1-94508969-G-A
gnomAD v3:
1-94043413-G-A
gnomAD v4:
1-94043413-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043413G>A , CM000663.2:g.94043413G>A | GRCh38 |
| NC_000001.10:g.94508969G>A , CM000663.1:g.94508969G>A | GRCh37 |
| NC_000001.9:g.94281557G>A | NCBI36 |
| NG_009073.1:g.82737C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3113C>T MANE Select | ENSP00000359245.3:p.Ala1038Val | |
| ENST00000370225.3:c.3113C>T | ENSP00000359245.3:p.Ala1038Val | |
| ENST00000536513.5:c.-64-3324C>T | ENSP00000439707.2:n.-64-3324C>T | |
| NM_000350.2:c.3113C>T | NP_000341.2:p.Ala1038Val | |
| NM_000350.3:c.3113C>T MANE Select | NP_000341.2:p.Ala1038Val |