Linked Data
ClinVar Variation Id:
56554
dbSNP Id:
rs386833990
ExAC:
6:74354130 C / T
gnomAD v2:
6-74354130-C-T
gnomAD v3:
6-73644407-C-T
gnomAD v4:
6-73644407-C-T
COSMIC:
COSM5723829
PubMed:
PMID:15172001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644407C>T , CM000668.2:g.73644407C>T | GRCh38 |
| NC_000006.11:g.74354130C>T , CM000668.1:g.74354130C>T | GRCh37 |
| NC_000006.10:g.74410851C>T | NCBI36 |
| NG_008272.1:g.14608G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.291G>A MANE Select | ENSP00000348019.5:p.Thr97= | |
| ENST00000355773.5:c.291G>A | ENSP00000348019.5:p.Thr97= | |
| ENST00000481996.1:n.57G>A | ||
| NM_012434.4:c.291G>A | NP_036566.1:p.Thr97= | |
| XM_005248710.2:c.240G>A | XP_005248767.1:p.Thr80= | |
| XM_005248711.1:c.93G>A | XP_005248768.1:p.Thr31= | |
| XM_011535750.1:c.291G>A | XP_011534052.1:p.Thr97= | |
| XM_011535751.1:c.291G>A | XP_011534053.1:p.Thr97= | |
| NM_012434.5:c.291G>A MANE Select | NP_036566.1:p.Thr97= | |
| NM_001382629.1:c.61-2483G>A | NP_001369558.1:n.61-2483G>A | |
| NM_001382630.1:c.291G>A | NP_001369559.1:p.Thr97= | |
| NM_001382631.1:c.312G>A | NP_001369560.1:p.Thr104= | |
| NM_001382632.1:c.291G>A | NP_001369561.1:p.Thr97= | |
| NM_001382633.1:c.291G>A | NP_001369562.1:p.Thr97= | |
| NM_001382634.1:c.291G>A | NP_001369563.1:p.Thr97= | |
| NM_001382635.1:c.291G>A | NP_001369564.1:p.Thr97= | |
| NM_001382636.1:c.61-2483G>A | NP_001369565.1:n.61-2483G>A |