Linked Data
ClinVar Variation Id:
1321785
ClinVar RCV Id:
RCV001779877
dbSNP Id:
rs756355886
ExAC:
6:49415369 C / A
gnomAD v2:
6-49415369-C-A
gnomAD v3:
6-49447656-C-A
gnomAD v4:
6-49447656-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447656C>A , CM000668.2:g.49447656C>A | GRCh38 |
| NC_000006.11:g.49415369C>A , CM000668.1:g.49415369C>A | GRCh37 |
| NC_000006.10:g.49523328C>A | NCBI36 |
| NG_007100.1:g.20484G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1560+14G>T MANE Select | ENSP00000274813.3:n.1560+14G>T | |
| ENST00000274813.3:c.1560+14G>T | ENSP00000274813.3:n.1560+14G>T | |
| NM_000255.3:c.1560+14G>T | NP_000246.2:n.1560+14G>T | |
| XM_005249143.2:c.1560+14G>T | XP_005249200.1:n.1560+14G>T | |
| XM_005249143.3:c.1560+14G>T | XP_005249200.1:n.1560+14G>T | |
| NM_000255.4:c.1560+14G>T MANE Select | NP_000246.2:n.1560+14G>T |