Linked Data
ClinVar Variation Id:
1544439
ClinVar RCV Id:
RCV002172966
dbSNP Id:
rs200558128
ExAC:
19:41847856 C / T
gnomAD v2:
19-41847856-C-T
gnomAD v3:
19-41341951-C-T
gnomAD v4:
19-41341951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341951C>T , CM000681.2:g.41341951C>T | GRCh38 |
| NC_000019.9:g.41847856C>T , CM000681.1:g.41847856C>T | GRCh37 |
| NC_000019.8:g.46539696C>T | NCBI36 |
| NG_013364.1:g.16976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.792G>A MANE Select | ENSP00000221930.4:p.Pro264= | |
| ENST00000600196.2:c.712+219G>A | ENSP00000504008.1:n.712+219G>A | |
| ENST00000677934.1:c.634+2796G>A | ENSP00000504769.1:n.634+2796G>A | |
| ENST00000221930.5:c.792G>A | ENSP00000221930.4:p.Pro264= | |
| ENST00000598758.5:c.80G>A | ||
| ENST00000600196.1:n.172+219G>A | ||
| NM_000660.5:c.792G>A | NP_000651.3:p.Pro264= | |
| XM_011527242.1:c.795G>A | XP_011525544.1:p.Pro265= | |
| NM_000660.6:c.792G>A | NP_000651.3:p.Pro264= | |
| XM_011527242.2:c.795G>A | XP_011525544.1:p.Pro265= | |
| NM_000660.7:c.792G>A MANE Select | NP_000651.3:p.Pro264= |