Linked Data
dbSNP Id:
rs1757278036
gnomAD v4:
6-3225603-G-A
MyVariant Identifiers:
chr6:g.3225837G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225603G>A , CM000668.2:g.3225603G>A | GRCh38 |
| NC_000006.11:g.3225837G>A , CM000668.1:g.3225837G>A | GRCh37 |
| NC_000006.10:g.3170836G>A | NCBI36 |
| NG_016715.1:g.7132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.486C>T MANE Select | ENSP00000259818.6:p.Arg162= | |
| ENST00000680070.1:n.1416C>T | ||
| ENST00000681707.1:n.1313C>T | ||
| ENST00000681757.1:n.791C>T | ||
| ENST00000259818.7:c.486C>T | ENSP00000259818.6:p.Arg162= | |
| ENST00000473006.1:n.603C>T | ||
| NM_178012.4:c.486C>T | NP_821080.1:p.Arg162= | |
| XM_011514571.1:c.270C>T | XP_011512873.1:p.Arg90= | |
| NM_178012.5:c.486C>T MANE Select | NP_821080.1:p.Arg162= |