Linked Data
ClinVar Variation Id:
1329311
ClinVar RCV Id:
RCV001799354
dbSNP Id:
rs1223921509
gnomAD v2:
9-139399308-C-T
gnomAD v4:
9-136504856-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504856C>T , CM000671.2:g.136504856C>T | GRCh38 |
| NC_000009.11:g.139399308C>T , CM000671.1:g.139399308C>T | GRCh37 |
| NC_000009.10:g.138519129C>T | NCBI36 |
| NG_007458.1:g.45931G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2642G>A | ||
| ENST00000651671.1:c.4835G>A MANE Select | ENSP00000498587.1:p.Gly1612Asp | |
| ENST00000679595.1:c.4835G>A | ENSP00000506241.1:p.Gly1612Asp | |
| ENST00000680133.1:c.4721G>A | ENSP00000505319.1:p.Gly1574Asp | |
| ENST00000680218.1:c.4715G>A | ENSP00000505339.1:p.Gly1572Asp | |
| ENST00000680668.1:c.4721G>A | ENSP00000506336.1:p.Gly1574Asp | |
| ENST00000680778.1:c.2432G>A | ENSP00000506033.1:p.Gly811Asp | |
| ENST00000680924.1:c.*2235G>A | ENSP00000506031.1:n.*2235G>A | |
| ENST00000681135.1:c.*2444G>A | ENSP00000506636.1:n.*2444G>A | |
| ENST00000681298.1:n.1648G>A | ||
| ENST00000681454.1:c.*4071G>A | ENSP00000505763.1:n.*4071G>A | |
| ENST00000277541.6:c.4835G>A | ENSP00000277541.6:p.Gly1612Asp | |
| NM_017617.3:c.4835G>A | NP_060087.3:p.Gly1612Asp | |
| XM_011518717.1:c.4136G>A | XP_011517019.1:p.Gly1379Asp | |
| NM_017617.5:c.4835G>A MANE Select | NP_060087.3:p.Gly1612Asp | |
| XM_011518717.2:c.4112G>A | XP_011517019.2:p.Gly1371Asp |