Linked Data
ClinVar Variation Id:
989538
ClinVar RCV Id:
RCV001277393
dbSNP Id:
rs147297426
ExAC:
12:110006659 C / G
gnomAD v2:
12-110006659-C-G
gnomAD v4:
12-109568854-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568854C>G , CM000674.2:g.109568854C>G | GRCh38 |
| NC_000012.11:g.110006659C>G , CM000674.1:g.110006659C>G | GRCh37 |
| NC_000012.10:g.108491042C>G | NCBI36 |
| NG_007096.1:g.9644G>C | |
| NG_007702.1:g.160C>G , LRG_156:g.160C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.206G>C MANE Select | ENSP00000445920.1:p.Ser69Thr | |
| ENST00000420167.6:c.*35G>C | ENSP00000416136.2:n.*35G>C | |
| ENST00000503497.7:c.206G>C | ENSP00000474881.1:p.Ser69Thr | |
| ENST00000536760.1:n.209G>C | ||
| ENST00000537236.2:c.206G>C | ENSP00000483818.1:p.Ser69Thr | |
| ENST00000537496.5:c.206G>C | ENSP00000444793.1:p.Ser69Thr | |
| ENST00000540016.5:c.135-3678G>C | ENSP00000474582.1:n.135-3678G>C | |
| ENST00000541763.6:c.206G>C | ENSP00000474981.1:p.Ser69Thr | |
| ENST00000542390.5:n.233G>C | ||
| ENST00000544051.5:c.144G>C | ENSP00000438079.1:p.Ter48Tyr | |
| ENST00000545712.6:c.206G>C | ENSP00000445920.1:p.Ser69Thr | |
| NM_052845.3:c.206G>C | NP_443077.1:p.Ser69Thr | |
| NR_038118.1:n.279G>C | ||
| XM_024448961.1:c.206G>C | XP_024304729.1:p.Ser69Thr | |
| NM_052845.4:c.206G>C MANE Select | NP_443077.1:p.Ser69Thr | |
| NR_038118.2:n.230G>C |