Linked Data
ClinVar Variation Id:
320005
dbSNP Id:
rs2301773
ExAC:
16:57485118 C / G
gnomAD v2:
16-57485118-C-G
gnomAD v3:
16-57451206-C-G
gnomAD v4:
16-57451206-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57451206C>G , CM000678.2:g.57451206C>G | GRCh38 |
| NC_000016.9:g.57485118C>G , CM000678.1:g.57485118C>G | GRCh37 |
| NC_000016.8:g.56042619C>G | NCBI36 |
| NG_027696.1:g.8782C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.240C>G MANE Select | ENSP00000262507.5:p.Pro80= | |
| ENST00000262507.10:c.240C>G | ENSP00000262507.5:p.Pro80= | |
| ENST00000562426.5:n.243C>G | ||
| ENST00000562734.5:n.264C>G | ||
| ENST00000563166.1:c.186C>G | ENSP00000455495.1:p.Pro62= | |
| ENST00000563391.1:c.-169C>G | ENSP00000455516.1:n.-169C>G | |
| ENST00000564115.5:c.240C>G | ENSP00000455256.1:p.Pro80= | |
| ENST00000564655.5:c.252C>G | ENSP00000454992.1:p.Pro84= | |
| ENST00000565964.5:c.240C>G | ENSP00000458023.1:p.Pro80= | |
| ENST00000566388.5:n.321C>G | ||
| ENST00000567072.5:c.240C>G | ENSP00000456728.1:p.Pro80= | |
| ENST00000567384.1:n.422C>G | ||
| ENST00000567480.1:n.170C>G | ||
| ENST00000567933.5:c.240C>G | ENSP00000456174.1:p.Pro80= | |
| ENST00000568790.5:n.264C>G | ||
| NM_020312.3:c.240C>G | NP_064708.1:p.Pro80= | |
| NM_020312.4:c.240C>G MANE Select | NP_064708.1:p.Pro80= |