Linked Data
ClinVar Variation Id:
357641
ClinVar RCV Id:
RCV003243112
dbSNP Id:
rs202181599
ExAC:
6:57055357 A / T
gnomAD v2:
6-57055357-A-T
gnomAD v3:
6-57190559-A-T
gnomAD v4:
6-57190559-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57190559A>T , CM000668.2:g.57190559A>T | GRCh38 |
| NC_000006.11:g.57055357A>T , CM000668.1:g.57055357A>T | GRCh37 |
| NC_000006.10:g.57163316A>T | NCBI36 |
| NG_012170.1:g.36722T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000468148.6:c.616T>A MANE Select | ENSP00000417610.1:p.Ser206Thr | |
| ENST00000317483.4:c.616T>A | ENSP00000320413.3:p.Ser206Thr | |
| ENST00000468148.5:c.616T>A | ENSP00000417610.1:p.Ser206Thr | |
| NM_001278666.1:c.616T>A | NP_001265595.1:p.Ser206Thr | |
| NM_001278667.1:c.616T>A | NP_001265596.1:p.Ser206Thr | |
| NM_001278668.1:c.616T>A | NP_001265597.1:p.Ser206Thr | |
| NM_016277.4:c.616T>A | NP_057361.3:p.Ser206Thr | |
| NM_183227.2:c.616T>A | NP_899050.1:p.Ser206Thr | |
| NR_103822.1:n.475T>A | ||
| NM_016277.5:c.616T>A MANE Select | NP_057361.3:p.Ser206Thr | |
| NM_001278666.2:c.616T>A | NP_001265595.1:p.Ser206Thr | |
| NM_001278667.2:c.616T>A | NP_001265596.1:p.Ser206Thr | |
| NM_001278668.2:c.616T>A | NP_001265597.1:p.Ser206Thr | |
| NM_183227.3:c.616T>A | NP_899050.1:p.Ser206Thr | |
| NR_103822.2:n.468T>A |