Linked Data
ClinVar Variation Id:
355324
dbSNP Id:
rs886061063
gnomAD v2:
6-132129196-G-T
gnomAD v3:
6-131808056-G-T
gnomAD v4:
6-131808056-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131808056G>T , CM000668.2:g.131808056G>T | GRCh38 |
| NC_000006.11:g.132129196G>T , CM000668.1:g.132129196G>T | GRCh37 |
| NC_000006.10:g.132170889G>T | NCBI36 |
| NG_008206.1:g.5041G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.21G>T MANE Select | ENSP00000498074.1:p.Ala7= | |
| ENST00000360971.6:c.21G>T | ENSP00000354238.2:p.Ala7= | |
| ENST00000486853.1:n.41G>T | ||
| ENST00000513998.5:c.21G>T | ENSP00000422424.1:p.Ala7= | |
| NM_006208.2:c.21G>T | NP_006199.2:p.Ala7= | |
| NM_006208.3:c.21G>T MANE Select | NP_006199.2:p.Ala7= |