Linked Data
ClinVar Variation Id:
222758
ClinVar RCV Id:
RCV000208466
RCV001060006
RCV001509385
RCV002270023
RCV002363043
RCV002500668
RCV003401116
dbSNP Id:
rs567909904
ExAC:
9:139391986 C / T
gnomAD v2:
9-139391986-C-T
gnomAD v3:
9-136497534-C-T
gnomAD v4:
9-136497534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497534C>T , CM000671.2:g.136497534C>T | GRCh38 |
| NC_000009.11:g.139391986C>T , CM000671.1:g.139391986C>T | GRCh37 |
| NC_000009.10:g.138511807C>T | NCBI36 |
| NG_007458.1:g.53253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6205G>A MANE Select | ENSP00000498587.1:p.Ala2069Thr | |
| ENST00000679595.1:c.*1245G>A | ENSP00000506241.1:n.*1245G>A | |
| ENST00000679969.1:n.2801G>A | ||
| ENST00000680003.1:n.2537G>A | ||
| ENST00000680133.1:c.6091G>A | ENSP00000505319.1:p.Ala2031Thr | |
| ENST00000680218.1:c.6085G>A | ENSP00000505339.1:p.Ala2029Thr | |
| ENST00000680668.1:c.6091G>A | ENSP00000506336.1:p.Ala2031Thr | |
| ENST00000680778.1:c.3802G>A | ENSP00000506033.1:p.Ala1268Thr | |
| ENST00000680924.1:c.*3605G>A | ENSP00000506031.1:n.*3605G>A | |
| ENST00000681135.1:c.*3814G>A | ENSP00000506636.1:n.*3814G>A | |
| ENST00000681298.1:n.4310G>A | ||
| ENST00000681454.1:c.*5441G>A | ENSP00000505763.1:n.*5441G>A | |
| ENST00000277541.6:c.6205G>A | ENSP00000277541.6:p.Ala2069Thr | |
| NM_017617.3:c.6205G>A | NP_060087.3:p.Ala2069Thr | |
| XM_011518717.1:c.5506G>A | XP_011517019.1:p.Ala1836Thr | |
| NM_017617.5:c.6205G>A MANE Select | NP_060087.3:p.Ala2069Thr | |
| XM_011518717.2:c.5482G>A | XP_011517019.2:p.Ala1828Thr |