Linked Data
ClinVar Variation Id:
1139664
ClinVar RCV Id:
RCV001476453
dbSNP Id:
rs747391696
ExAC:
6:49426988 C / T
gnomAD v2:
6-49426988-C-T
gnomAD v3:
6-49459275-C-T
gnomAD v4:
6-49459275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459275C>T , CM000668.2:g.49459275C>T | GRCh38 |
| NC_000006.11:g.49426988C>T , CM000668.1:g.49426988C>T | GRCh37 |
| NC_000006.10:g.49534947C>T | NCBI36 |
| NG_007100.1:g.8865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.192G>A MANE Select | ENSP00000274813.3:p.Pro64= | |
| ENST00000274813.3:c.192G>A | ENSP00000274813.3:p.Pro64= | |
| NM_000255.3:c.192G>A | NP_000246.2:p.Pro64= | |
| XM_005249143.2:c.192G>A | XP_005249200.1:p.Pro64= | |
| XM_005249143.3:c.192G>A | XP_005249200.1:p.Pro64= | |
| NM_000255.4:c.192G>A MANE Select | NP_000246.2:p.Pro64= |