Linked Data
ClinVar Variation Id:
2082569
ClinVar RCV Id:
RCV003007309
dbSNP Id:
rs199971460
ExAC:
16:75513014 C / T
gnomAD v2:
16-75513014-C-T
gnomAD v3:
16-75479116-C-T
gnomAD v4:
16-75479116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479116C>T , CM000678.2:g.75479116C>T | GRCh38 |
| NC_000016.9:g.75513014C>T , CM000678.1:g.75513014C>T | GRCh37 |
| NC_000016.8:g.74070515C>T | NCBI36 |
| NG_016442.1:g.20913G>A | |
| NG_016442.2:g.21326G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.713G>A MANE Select | ENSP00000328983.4:p.Gly238Asp | |
| ENST00000390664.3:c.713G>A | ENSP00000375079.2:p.Gly238Asp | |
| ENST00000649341.1:c.713G>A | ENSP00000497635.1:p.Gly238Asp | |
| ENST00000649824.1:c.713G>A | ENSP00000496806.1:p.Gly238Asp | |
| ENST00000332272.8:c.713G>A | ENSP00000328983.4:p.Gly238Asp | |
| ENST00000390664.2:c.713G>A | ENSP00000375079.2:p.Gly238Asp | |
| NM_021615.4:c.713G>A | NP_067628.1:p.Gly238Asp | |
| XM_005255955.3:c.713G>A | XP_005256012.1:p.Gly238Asp | |
| XM_011523085.1:c.713G>A | XP_011521387.1:p.Gly238Asp | |
| NM_021615.5:c.713G>A MANE Select | NP_067628.1:p.Gly238Asp | |
| XM_005255955.5:c.713G>A | XP_005256012.1:p.Gly238Asp | |
| XM_011523085.3:c.713G>A | XP_011521387.1:p.Gly238Asp | |
| NR_163480.1:n.733+2701G>A | ||
| NR_163481.1:n.577+2701G>A |