Linked Data
ClinVar Variation Id:
2047925
ClinVar RCV Id:
RCV002918411
dbSNP Id:
rs371464490
ExAC:
2:241818114 C / T
gnomAD v2:
2-241818114-C-T
gnomAD v3:
2-240878697-C-T
gnomAD v4:
2-240878697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878697C>T , CM000664.2:g.240878697C>T | GRCh38 |
| NC_000002.11:g.241818114C>T , CM000664.1:g.241818114C>T | GRCh37 |
| NC_000002.10:g.241466787C>T | NCBI36 |
| NG_008005.1:g.14953C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1072-17C>T MANE Select | ENSP00000302620.3:n.1072-17C>T | |
| ENST00000307503.3:c.1072-17C>T | ENSP00000302620.3:n.1072-17C>T | |
| ENST00000470255.1:n.850-17C>T | ||
| NM_000030.2:c.1072-17C>T | NP_000021.1:n.1072-17C>T | |
| NM_000030.3:c.1072-17C>T MANE Select | NP_000021.1:n.1072-17C>T |