Linked Data
ClinVar Variation Id:
381728
dbSNP Id:
rs748118737
ExAC:
1:227170436 C / T
gnomAD v2:
1-227170436-C-T
gnomAD v3:
1-226982735-C-T
gnomAD v4:
1-226982735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226982735C>T , CM000663.2:g.226982735C>T | GRCh38 |
| NC_000001.10:g.227170436C>T , CM000663.1:g.227170436C>T | GRCh37 |
| NC_000001.9:g.225237059C>T | NCBI36 |
| NG_012825.1:g.47499C>T | |
| NG_012825.2:g.90200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.911C>T MANE Select | ENSP00000355739.3:p.Ala304Val | |
| ENST00000366779.6:c.*5638C>T | ENSP00000355741.2:n.*5638C>T | |
| ENST00000676884.1:c.*5760C>T | ENSP00000503200.1:n.*5760C>T | |
| ENST00000366777.3:c.911C>T | ENSP00000355739.3:p.Ala304Val | |
| ENST00000366778.5:c.755C>T | ENSP00000355740.1:p.Ala252Val | |
| ENST00000366779.5:c.911C>T | ENSP00000355741.1:p.Ala304Val | |
| ENST00000478406.5:n.890C>T | ||
| ENST00000485462.5:n.301C>T | ||
| NM_020247.4:c.911C>T | NP_064632.2:p.Ala304Val | |
| XM_005273201.1:c.911C>T | XP_005273258.1:p.Ala304Val | |
| XM_011544238.1:c.911C>T | XP_011542540.1:p.Ala304Val | |
| XM_011544239.1:c.911C>T | XP_011542541.1:p.Ala304Val | |
| XM_011544240.1:c.911C>T | XP_011542542.1:p.Ala304Val | |
| XM_011544241.1:c.911C>T | XP_011542543.1:p.Ala304Val | |
| XM_011544239.2:c.911C>T | XP_011542541.1:p.Ala304Val | |
| XM_011544241.2:c.911C>T | XP_011542543.1:p.Ala304Val | |
| XM_017001852.1:c.911C>T | XP_016857341.1:p.Ala304Val | |
| XM_024448517.1:c.911C>T | XP_024304285.1:p.Ala304Val | |
| XM_024448518.1:c.911C>T | XP_024304286.1:p.Ala304Val | |
| NM_020247.5:c.911C>T MANE Select | NP_064632.2:p.Ala304Val |