Linked Data
dbSNP Id:
rs764321712
ExAC:
7:65447033 G / C
gnomAD v2:
7-65447033-G-C
gnomAD v4:
7-65982046-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65982046G>C , CM000669.2:g.65982046G>C | GRCh38 |
| NC_000007.13:g.65447033G>C , CM000669.1:g.65447033G>C | GRCh37 |
| NC_000007.12:g.65084468G>C | NCBI36 |
| NG_016197.1:g.5269C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304895.9:c.138C>G MANE Select | ENSP00000302728.4:p.Ser46Arg | |
| ENST00000304895.8:c.138C>G | ENSP00000302728.4:p.Ser46Arg | |
| ENST00000421103.5:c.138C>G | ENSP00000391390.1:p.Ser46Arg | |
| ENST00000430730.5:c.138C>G | ENSP00000411859.1:p.Ser46Arg | |
| ENST00000446111.1:c.138C>G | ENSP00000416793.1:p.Ser46Arg | |
| ENST00000447929.5:c.138C>G | ENSP00000411262.1:p.Ser46Arg | |
| ENST00000475316.5:n.43C>G | ||
| NM_000181.3:c.138C>G | NP_000172.2:p.Ser46Arg | |
| NM_001284290.1:c.138C>G | NP_001271219.1:p.Ser46Arg | |
| NM_001293104.1:c.-248C>G | NP_001280033.1:n.-248C>G | |
| NM_001293105.1:c.-192C>G | NP_001280034.1:n.-192C>G | |
| NR_120531.1:n.269C>G | ||
| XM_005250297.3:c.138C>G | XP_005250354.1:p.Ser46Arg | |
| XM_011516113.1:c.-192C>G | XP_011514415.1:n.-192C>G | |
| XR_927461.1:n.264C>G | ||
| XM_005250297.4:c.138C>G | XP_005250354.1:p.Ser46Arg | |
| XM_011516114.2:c.-548C>G | XP_011514416.1:n.-548C>G | |
| XM_017012091.1:c.-192C>G | XP_016867580.1:n.-192C>G | |
| XM_017012092.1:c.-248C>G | XP_016867581.1:n.-248C>G | |
| XM_017012093.2:c.-548C>G | XP_016867582.1:n.-548C>G | |
| XR_001744658.2:n.183C>G | ||
| XR_001744659.2:n.183C>G | ||
| XR_001744660.2:n.183C>G | ||
| XR_001744661.2:n.183C>G | ||
| XR_927461.3:n.183C>G | ||
| NM_000181.4:c.138C>G MANE Select | NP_000172.2:p.Ser46Arg | |
| NM_001284290.2:c.138C>G | NP_001271219.1:p.Ser46Arg | |
| NM_001293104.2:c.-248C>G | NP_001280033.1:n.-248C>G | |
| NM_001293105.2:c.-192C>G | NP_001280034.1:n.-192C>G | |
| NR_120531.2:n.168C>G |