Linked Data
ClinVar Variation Id:
306800
dbSNP Id:
rs34083392
ExAC:
12:102153860 G / A
gnomAD v2:
12-102153860-G-A
gnomAD v3:
12-101760082-G-A
gnomAD v4:
12-101760082-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760082G>A , CM000674.2:g.101760082G>A | GRCh38 |
| NC_000012.11:g.102153860G>A , CM000674.1:g.102153860G>A | GRCh37 |
| NC_000012.10:g.100677991G>A | NCBI36 |
| NG_021243.1:g.75786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3197C>T MANE Select | ENSP00000299314.7:p.Thr1066Met | |
| ENST00000299314.11:c.3197C>T | ENSP00000299314.7:p.Thr1066Met | |
| ENST00000549194.1:n.63C>T | ||
| ENST00000550718.1:c.9C>T | ||
| NM_024312.4:c.3197C>T | NP_077288.2:p.Thr1066Met | |
| XM_006719593.2:c.3197C>T | XP_006719656.1:p.Thr1066Met | |
| XM_011538731.1:c.3116C>T | XP_011537033.1:p.Thr1039Met | |
| XM_006719593.3:c.3197C>T | XP_006719656.1:p.Thr1066Met | |
| XM_011538731.2:c.3116C>T | XP_011537033.1:p.Thr1039Met | |
| XM_017019961.1:c.2981C>T | XP_016875450.1:p.Thr994Met | |
| XM_017019962.2:c.1970C>T | XP_016875451.1:p.Thr657Met | |
| NM_024312.5:c.3197C>T MANE Select | NP_077288.2:p.Thr1066Met |