Linked Data
dbSNP Id:
rs1010151640
gnomAD v2:
7-147601864-A-C
gnomAD v3:
7-147904772-A-C
gnomAD v4:
7-147904772-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147904772A>C , CM000669.2:g.147904772A>C | GRCh38 |
| NC_000007.13:g.147601864A>C , CM000669.1:g.147601864A>C | GRCh37 |
| NC_000007.12:g.147232797A>C | NCBI36 |
| NG_007092.2:g.1793412A>C | |
| NG_007092.3:g.1793772A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2255+1051A>C MANE Select | ENSP00000354778.3:n.2255+1051A>C | |
| ENST00000636870.1:n.2117+1051A>C | ||
| ENST00000637825.1:n.1738+1051A>C | ||
| ENST00000361727.7:c.2255+1051A>C | ENSP00000354778.3:n.2255+1051A>C | |
| ENST00000455301.2:n.190+1051A>C | ||
| ENST00000627772.2:n.428+1051A>C | ||
| NM_014141.5:c.2255+1051A>C | NP_054860.1:n.2255+1051A>C | |
| XM_006715919.1:c.743+1051A>C | XP_006715982.1:n.743+1051A>C | |
| NM_014141.6:c.2255+1051A>C MANE Select | NP_054860.1:n.2255+1051A>C |