Linked Data
dbSNP Id:
rs372550726
ExAC:
7:65425966 C / T
gnomAD v2:
7-65425966-C-T
COSMIC:
COSM1209223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960979C>T , CM000669.2:g.65960979C>T | GRCh38 |
| NC_000007.13:g.65425966C>T , CM000669.1:g.65425966C>T | GRCh37 |
| NC_000007.12:g.65063401C>T | NCBI36 |
| NG_016197.1:g.26336G>A | |
| NG_051954.1:g.92881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1874G>A MANE Select | ENSP00000302728.4:p.Arg625Lys | |
| ENST00000304895.8:c.1874G>A | ENSP00000302728.4:p.Arg625Lys | |
| ENST00000421103.5:c.1436G>A | ENSP00000391390.1:p.Arg479Lys | |
| ENST00000430730.5:c.*1141G>A | ENSP00000411859.1:n.*1141G>A | |
| ENST00000447929.5:c.*1254G>A | ENSP00000411262.1:n.*1254G>A | |
| ENST00000466883.5:n.2264G>A | ||
| NM_000181.3:c.1874G>A | NP_000172.2:p.Arg625Lys | |
| NM_001284290.1:c.1436G>A | NP_001271219.1:p.Arg479Lys | |
| NM_001293104.1:c.1304G>A | NP_001280033.1:p.Arg435Lys | |
| NM_001293105.1:c.1217G>A | NP_001280034.1:p.Arg406Lys | |
| NR_120531.1:n.1920G>A | ||
| XM_005250297.3:c.1721G>A | XP_005250354.1:p.Arg574Lys | |
| XM_011516113.1:c.1373G>A | XP_011514415.1:p.Arg458Lys | |
| XM_011516114.1:c.1202G>A | XP_011514416.1:p.Arg401Lys | |
| XM_005250297.4:c.1721G>A | XP_005250354.1:p.Arg574Lys | |
| XM_011516114.2:c.1202G>A | XP_011514416.1:p.Arg401Lys | |
| XM_017012091.1:c.1220G>A | XP_016867580.1:p.Arg407Lys | |
| XM_017012092.1:c.1151G>A | XP_016867581.1:p.Arg384Lys | |
| XM_017012093.2:c.1049G>A | XP_016867582.1:p.Arg350Lys | |
| XR_001744658.2:n.1681G>A | ||
| XR_001744659.2:n.1794G>A | ||
| XR_001744660.2:n.1726G>A | ||
| XR_001744661.2:n.1641G>A | ||
| XR_927461.3:n.1879G>A | ||
| NM_000181.4:c.1874G>A MANE Select | NP_000172.2:p.Arg625Lys | |
| NM_001284290.2:c.1436G>A | NP_001271219.1:p.Arg479Lys | |
| NM_001293104.2:c.1304G>A | NP_001280033.1:p.Arg435Lys | |
| NM_001293105.2:c.1217G>A | NP_001280034.1:p.Arg406Lys | |
| NR_120531.2:n.1819G>A |