Linked Data
ClinVar Variation Id:
2796744
ClinVar RCV Id:
RCV003757390
dbSNP Id:
rs201731610
gnomAD v4:
6-57193864-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57193864C>A , CM000668.2:g.57193864C>A | GRCh38 |
| NC_000006.11:g.57058662C>A , CM000668.1:g.57058662C>A | GRCh37 |
| NC_000006.10:g.57166621C>A | NCBI36 |
| NG_012170.1:g.33417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.552G>T MANE Select | ENSP00000417610.1:p.Thr184= | |
| ENST00000317483.4:c.552G>T | ENSP00000320413.3:p.Thr184= | |
| ENST00000468148.5:c.552G>T | ENSP00000417610.1:p.Thr184= | |
| NM_001278666.1:c.552G>T | NP_001265595.1:p.Thr184= | |
| NM_001278667.1:c.552G>T | NP_001265596.1:p.Thr184= | |
| NM_001278668.1:c.552G>T | NP_001265597.1:p.Thr184= | |
| NM_016277.4:c.552G>T | NP_057361.3:p.Thr184= | |
| NM_183227.2:c.552G>T | NP_899050.1:p.Thr184= | |
| NR_103822.1:n.411G>T | ||
| XM_005249179.2:c.*64G>T | XP_005249236.1:n.*64G>T | |
| NM_016277.5:c.552G>T MANE Select | NP_057361.3:p.Thr184= | |
| NM_001278666.2:c.552G>T | NP_001265595.1:p.Thr184= | |
| NM_001278667.2:c.552G>T | NP_001265596.1:p.Thr184= | |
| NM_001278668.2:c.552G>T | NP_001265597.1:p.Thr184= | |
| NM_183227.3:c.552G>T | NP_899050.1:p.Thr184= | |
| NR_103822.2:n.404G>T |