Linked Data
dbSNP Id:
rs768122910
ExAC:
5:158747397 C / T
gnomAD v2:
5-158747397-C-T
gnomAD v4:
5-159320389-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320389C>T , CM000667.2:g.159320389C>T | GRCh38 |
| NC_000005.9:g.158747397C>T , CM000667.1:g.158747397C>T | GRCh37 |
| NC_000005.8:g.158679975C>T | NCBI36 |
| NG_009618.1:g.15085G>A , LRG_71:g.15085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-17G>A | ENSP00000512849.1:n.-17G>A | |
| ENST00000696751.1:c.*109G>A | ENSP00000512850.1:n.*109G>A | |
| ENST00000231228.3:c.614G>A MANE Select | ENSP00000231228.2:p.Ser205Asn | |
| ENST00000231228.2:c.614G>A | ENSP00000231228.2:p.Ser205Asn | |
| NM_002187.2:c.614G>A , LRG_71t1:c.614G>A | NP_002178.2:p.Ser205Asn | |
| NM_002187.3:c.614G>A MANE Select | NP_002178.2:p.Ser205Asn |