Linked Data
ClinVar Variation Id:
2798526
ClinVar RCV Id:
RCV003749276
dbSNP Id:
rs1224157151
gnomAD v2:
9-139399205-G-T
gnomAD v4:
9-136504753-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504753G>T , CM000671.2:g.136504753G>T | GRCh38 |
| NC_000009.11:g.139399205G>T , CM000671.1:g.139399205G>T | GRCh37 |
| NC_000009.10:g.138519026G>T | NCBI36 |
| NG_007458.1:g.46034C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2745C>A | ||
| ENST00000651671.1:c.4938C>A MANE Select | ENSP00000498587.1:p.Gly1646= | |
| ENST00000679595.1:c.4938C>A | ENSP00000506241.1:p.Gly1646= | |
| ENST00000680133.1:c.4824C>A | ENSP00000505319.1:p.Gly1608= | |
| ENST00000680218.1:c.4818C>A | ENSP00000505339.1:p.Gly1606= | |
| ENST00000680668.1:c.4824C>A | ENSP00000506336.1:p.Gly1608= | |
| ENST00000680778.1:c.2535C>A | ENSP00000506033.1:p.Gly845= | |
| ENST00000680924.1:c.*2338C>A | ENSP00000506031.1:n.*2338C>A | |
| ENST00000681135.1:c.*2547C>A | ENSP00000506636.1:n.*2547C>A | |
| ENST00000681298.1:n.1751C>A | ||
| ENST00000681454.1:c.*4174C>A | ENSP00000505763.1:n.*4174C>A | |
| ENST00000277541.6:c.4938C>A | ENSP00000277541.6:p.Gly1646= | |
| ENST00000494783.1:n.93C>A | ||
| NM_017617.3:c.4938C>A | NP_060087.3:p.Gly1646= | |
| XM_011518717.1:c.4239C>A | XP_011517019.1:p.Gly1413= | |
| NM_017617.5:c.4938C>A MANE Select | NP_060087.3:p.Gly1646= | |
| XM_011518717.2:c.4215C>A | XP_011517019.2:p.Gly1405= |