Linked Data
ClinVar Variation Id:
64573
ClinVar RCV Id:
RCV000054760
dbSNP Id:
rs373756563
ExAC:
7:142626168 C / T
gnomAD v2:
7-142626168-C-T
gnomAD v3:
7-142929073-C-T
gnomAD v4:
7-142929073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142929073C>T , CM000669.2:g.142929073C>T | GRCh38 |
| NC_000007.13:g.142626168C>T , CM000669.1:g.142626168C>T | GRCh37 |
| NC_000007.12:g.142336290C>T | NCBI36 |
| NG_046912.1:g.9651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265310.6:c.535G>A MANE Select | ENSP00000265310.1:p.Val179Met | |
| ENST00000265310.5:c.535G>A | ENSP00000265310.1:p.Val179Met | |
| ENST00000439304.5:c.517G>A | ENSP00000406361.1:p.Val173Met | |
| ENST00000442623.1:c.535G>A | ENSP00000406572.1:p.Val179Met | |
| NM_019841.6:c.535G>A | NP_062815.3:p.Val179Met | |
| NM_019841.7:c.535G>A MANE Select | NP_062815.3:p.Val179Met |