Linked Data
ClinVar Variation Id:
2094290
ClinVar RCV Id:
RCV003021265
dbSNP Id:
rs756073255
ExAC:
6:49426958 G / A
gnomAD v2:
6-49426958-G-A
gnomAD v4:
6-49459245-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459245G>A , CM000668.2:g.49459245G>A | GRCh38 |
| NC_000006.11:g.49426958G>A , CM000668.1:g.49426958G>A | GRCh37 |
| NC_000006.10:g.49534917G>A | NCBI36 |
| NG_007100.1:g.8895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.222C>T MANE Select | ENSP00000274813.3:p.Ser74= | |
| ENST00000274813.3:c.222C>T | ENSP00000274813.3:p.Ser74= | |
| NM_000255.3:c.222C>T | NP_000246.2:p.Ser74= | |
| XM_005249143.2:c.222C>T | XP_005249200.1:p.Ser74= | |
| XM_005249143.3:c.222C>T | XP_005249200.1:p.Ser74= | |
| NM_000255.4:c.222C>T MANE Select | NP_000246.2:p.Ser74= |