Linked Data
ClinVar Variation Id:
132880
ClinVar RCV Id:
RCV000119317
dbSNP Id:
rs199476229
ExAC:
19:56223996 G / C
gnomAD v2:
19-56223996-G-C
gnomAD v3:
19-55712630-G-C
gnomAD v4:
19-55712630-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55712630G>C , CM000681.2:g.55712630G>C | GRCh38 |
| NC_000019.9:g.56223996G>C , CM000681.1:g.56223996G>C | GRCh37 |
| NC_000019.8:g.60915808G>C | NCBI36 |
| NG_046901.1:g.37899C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332836.7:c.2502-40C>G MANE Select | ENSP00000331857.2:n.2502-40C>G | |
| ENST00000332836.6:c.2502-40C>G | ENSP00000331857.2:n.2502-40C>G | |
| ENST00000590200.1:c.2502-40C>G | ENSP00000465253.1:n.2502-40C>G | |
| NM_176820.3:c.2502-40C>G | NP_789790.2:n.2502-40C>G | |
| XM_011526893.1:c.2502-40C>G | XP_011525195.1:n.2502-40C>G | |
| XM_011526894.1:c.366-40C>G | XP_011525196.1:n.366-40C>G | |
| XM_011526895.1:c.366-40C>G | XP_011525197.1:n.366-40C>G | |
| XM_011526894.2:c.366-40C>G | XP_011525196.1:n.366-40C>G | |
| NM_176820.4:c.2502-40C>G MANE Select | NP_789790.2:n.2502-40C>G |