Linked Data
ClinVar Variation Id:
256597
dbSNP Id:
rs886038346
gnomAD v2:
12-121437117-C-T
gnomAD v4:
12-120999314-C-T
ERepo:
CA10587144/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999314C>T , CM000674.2:g.120999314C>T | GRCh38 |
| NC_000012.11:g.121437117C>T , CM000674.1:g.121437117C>T | GRCh37 |
| NC_000012.10:g.119921500C>T | NCBI36 |
| NG_011731.2:g.25569C>T , LRG_522:g.25569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*295C>T | ENSP00000453965.2:n.*295C>T | |
| ENST00000257555.11:c.1548C>T MANE Select | ENSP00000257555.5:p.Gly516= | |
| ENST00000257555.10:c.1548C>T | ENSP00000257555.4:p.Gly516= | |
| ENST00000540108.1:c.*988C>T | ENSP00000445445.1:n.*988C>T | |
| ENST00000541395.5:c.1548C>T | ENSP00000443112.1:p.Gly516= | |
| ENST00000543427.5:c.1011C>T | ENSP00000439721.2:p.Gly337= | |
| ENST00000544413.2:c.1548C>T | ENSP00000438804.1:p.Gly516= | |
| ENST00000560968.5:c.1365C>T | ||
| ENST00000615446.4:c.336C>T | ENSP00000483994.1:p.Gly112= | |
| ENST00000617366.4:c.665C>T | ENSP00000481967.1:p.Ala222Val | |
| NM_000545.5:c.1548C>T , LRG_522t1:c.1548C>T | NP_000536.5:p.Gly516= | |
| NM_000545.6:c.1548C>T | NP_000536.5:p.Gly516= | |
| NM_001306179.1:c.1548C>T | NP_001293108.1:p.Gly516= | |
| XM_005253931.2:c.1548C>T | XP_005253988.1:p.Gly516= | |
| XM_024449168.1:c.1548C>T | XP_024304936.1:p.Gly516= | |
| NM_000545.8:c.1548C>T MANE Select | NP_000536.6:p.Gly516= | |
| NM_001306179.2:c.1548C>T | NP_001293108.2:p.Gly516= |