Linked Data
ClinVar Variation Id:
963066
ClinVar RCV Id:
RCV003763917
dbSNP Id:
rs1254158106
gnomAD v3:
6-32842763-C-T
gnomAD v4:
6-32842763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842763C>T , CM000668.2:g.32842763C>T | GRCh38 |
| NC_000006.11:g.32810540C>T , CM000668.1:g.32810540C>T | GRCh37 |
| NC_000006.10:g.32918518C>T | NCBI36 |
| NG_009793.3:g.1008G>A | |
| NG_028165.1:g.7173G>A | |
| NG_009793.4:g.1008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.495G>A | ||
| ENST00000697612.1:n.1173G>A | ||
| ENST00000374881.3:c.304G>A | ENSP00000364015.2:p.Val102Met | |
| ENST00000374882.8:c.316G>A MANE Select | ENSP00000364016.4:p.Val106Met | |
| ENST00000650411.1:n.1637G>A | ||
| ENST00000650793.1:n.495G>A | ||
| ENST00000374881.2:c.304G>A | ENSP00000364015.2:p.Val102Met | |
| ENST00000374882.7:c.316G>A | ENSP00000364016.3:p.Val106Met | |
| ENST00000395339.7:c.296-52G>A | ENSP00000378748.3:n.296-52G>A | |
| ENST00000484003.1:n.700G>A | ||
| NM_004159.4:c.304G>A | NP_004150.1:p.Val102Met | |
| NM_148919.3:c.316G>A | NP_683720.2:p.Val106Met | |
| NM_148919.4:c.316G>A MANE Select | NP_683720.2:p.Val106Met | |
| NM_004159.5:c.304G>A | NP_004150.1:p.Val102Met |