Linked Data
ClinVar Variation Id:
1251014
ClinVar RCV Id:
RCV001655367
dbSNP Id:
rs10013653
ExAC:
4:187115632 C / A
gnomAD v2:
4-187115632-C-A
gnomAD v3:
4-186194478-C-A
gnomAD v4:
4-186194478-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194478C>A , CM000666.2:g.186194478C>A | GRCh38 |
| NC_000004.11:g.187115632C>A , CM000666.1:g.187115632C>A | GRCh37 |
| NC_000004.10:g.187352626C>A | NCBI36 |
| NG_007965.1:g.7959C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.215-22C>A MANE Select | ENSP00000368079.4:n.215-22C>A | |
| ENST00000378802.4:c.215-22C>A | ENSP00000368079.4:n.215-22C>A | |
| NM_207352.3:c.215-22C>A | NP_997235.3:n.215-22C>A | |
| XM_005262935.2:c.215-22C>A | XP_005262992.1:n.215-22C>A | |
| XM_005262935.4:c.215-22C>A | XP_005262992.1:n.215-22C>A | |
| XM_017008037.1:c.-96-22C>A | XP_016863526.1:n.-96-22C>A | |
| NM_207352.4:c.215-22C>A MANE Select | NP_997235.3:n.215-22C>A |