Linked Data
ClinVar Variation Id:
2175200
ClinVar RCV Id:
RCV002579042
dbSNP Id:
rs371563202
ExAC:
19:41847783 C / T
gnomAD v2:
19-41847783-C-T
gnomAD v3:
19-41341878-C-T
gnomAD v4:
19-41341878-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341878C>T , CM000681.2:g.41341878C>T | GRCh38 |
| NC_000019.9:g.41847783C>T , CM000681.1:g.41847783C>T | GRCh37 |
| NC_000019.8:g.46539623C>T | NCBI36 |
| NG_013364.1:g.17049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.860+5G>A MANE Select | ENSP00000221930.4:n.860+5G>A | |
| ENST00000600196.2:c.712+292G>A | ENSP00000504008.1:n.712+292G>A | |
| ENST00000677934.1:c.634+2869G>A | ENSP00000504769.1:n.634+2869G>A | |
| ENST00000221930.5:c.860+5G>A | ENSP00000221930.4:n.860+5G>A | |
| ENST00000598758.5:c.148+5G>A | ||
| ENST00000600196.1:n.172+292G>A | ||
| NM_000660.5:c.860+5G>A | NP_000651.3:n.860+5G>A | |
| XM_011527242.1:c.863+5G>A | XP_011525544.1:n.863+5G>A | |
| NM_000660.6:c.860+5G>A | NP_000651.3:n.860+5G>A | |
| XM_011527242.2:c.863+5G>A | XP_011525544.1:n.863+5G>A | |
| NM_000660.7:c.860+5G>A MANE Select | NP_000651.3:n.860+5G>A |