Linked Data
dbSNP Id:
rs757134663
ExAC:
6:6589103 G / A
gnomAD v2:
6-6589103-G-A
gnomAD v3:
6-6588870-G-A
gnomAD v4:
6-6588870-G-A
COSMIC:
COSM6189182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6588870G>A , CM000668.2:g.6588870G>A | GRCh38 |
| NC_000006.11:g.6589103G>A , CM000668.1:g.6589103G>A | GRCh37 |
| NC_000006.10:g.6534102G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230568.5:c.136G>A (LY86) MANE Select | ENSP00000230568.3:p.Asp46Asn | |
| ENST00000230568.4:c.136G>A (LY86) | ENSP00000230568.3:p.Asp46Asn | |
| ENST00000379953.6:c.136G>A (LY86) | ENSP00000369286.1:p.Asp46Asn | |
| NM_004271.3:c.136G>A (LY86) | NP_004262.1:p.Asp46Asn | |
| NR_026970.1:n.196-19381C>T (LY86-AS1) | ||
| XM_017011505.1:c.136G>A (LY86) | XP_016866994.1:p.Asp46Asn | |
| NM_004271.4:c.136G>A (LY86) MANE Select | NP_004262.1:p.Asp46Asn |