Linked Data
ClinVar Variation Id:
254731
dbSNP Id:
rs149671008
ExAC:
9:104192205 A / C
gnomAD v2:
9-104192205-A-C
gnomAD v3:
9-101429923-A-C
gnomAD v4:
9-101429923-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429923A>C , CM000671.2:g.101429923A>C | GRCh38 |
| NC_000009.11:g.104192205A>C , CM000671.1:g.104192205A>C | GRCh37 |
| NC_000009.10:g.103232026A>C | NCBI36 |
| NG_012387.1:g.10858T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.156T>G MANE Select | ENSP00000497767.1:p.Thr52= | |
| ENST00000648064.1:c.156T>G | ENSP00000497990.1:p.Thr52= | |
| ENST00000648423.1:c.156T>G | ENSP00000497985.1:p.Thr52= | |
| ENST00000648758.1:c.156T>G | ENSP00000497731.1:p.Thr52= | |
| ENST00000648906.1:n.326T>G | ||
| ENST00000649902.1:c.156T>G | ENSP00000497216.1:p.Thr52= | |
| ENST00000650613.1:n.232T>G | ||
| ENST00000374855.8:c.156T>G | ENSP00000363988.4:p.Thr52= | |
| ENST00000616752.1:c.156T>G | ENSP00000481363.1:p.Thr52= | |
| NM_000035.3:c.156T>G | NP_000026.2:p.Thr52= | |
| NM_000035.4:c.156T>G MANE Select | NP_000026.2:p.Thr52= |