Linked Data
dbSNP Id:
rs748312308
ExAC:
11:67353988 G / A
gnomAD v2:
11-67353988-G-A
gnomAD v4:
11-67586517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586517G>A , CM000673.2:g.67586517G>A | GRCh38 |
| NC_000011.9:g.67353988G>A , CM000673.1:g.67353988G>A | GRCh37 |
| NC_000011.8:g.67110564G>A | NCBI36 |
| NG_012075.1:g.7923G>A , LRG_723:g.7923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.465G>A | ENSP00000381604.1:p.Lys155= | |
| ENST00000398606.10:c.573G>A MANE Select | ENSP00000381607.3:p.Lys191= | |
| ENST00000398603.5:c.465G>A | ENSP00000381604.1:p.Lys155= | |
| ENST00000398606.7:c.573G>A | ENSP00000381607.3:p.Lys191= | |
| ENST00000467591.1:n.684G>A | ||
| ENST00000494593.1:n.1545G>A | ||
| ENST00000498765.5:c.636G>A | ||
| NM_000852.3:c.573G>A , LRG_723t1:c.573G>A | NP_000843.1:p.Lys191= | |
| NM_000852.4:c.573G>A MANE Select | NP_000843.1:p.Lys191= |