Linked Data
ClinVar Variation Id:
241506
dbSNP Id:
rs148051351
ExAC:
16:4851280 G / A
gnomAD v2:
16-4851280-G-A
gnomAD v3:
16-4801279-G-A
gnomAD v4:
16-4801279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4801279G>A , CM000678.2:g.4801279G>A | GRCh38 |
| NC_000016.9:g.4851280G>A , CM000678.1:g.4851280G>A | GRCh37 |
| NC_000016.8:g.4791281G>A | NCBI36 |
| NG_032174.1:g.6672C>T , LRG_455:g.6672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.243C>T MANE Select | ENSP00000322832.6:p.Ala81= | |
| ENST00000322048.11:c.243C>T | ENSP00000322832.5:p.Ala81= | |
| ENST00000585653.1:n.375C>T | ||
| ENST00000585871.1:n.733C>T | ||
| ENST00000586336.5:n.354+224C>T | ||
| ENST00000586504.5:c.23C>T | ||
| ENST00000587377.5:c.243C>T | ENSP00000468343.1:p.Ala81= | |
| ENST00000587711.5:c.117+1103C>T | ENSP00000467459.1:n.117+1103C>T | |
| ENST00000587843.5:c.200+224C>T | ENSP00000465970.1:n.200+224C>T | |
| ENST00000588201.5:c.243C>T | ENSP00000466529.1:p.Ala81= | |
| ENST00000589543.5:n.200C>T | ||
| ENST00000591292.5:n.884C>T | ||
| ENST00000591392.5:c.171C>T | ENSP00000467509.1:p.Ala57= | |
| NM_024589.2:c.243C>T , LRG_455t1:c.243C>T | NP_078865.1:p.Ala81= | |
| NR_046480.1:n.579+224C>T | ||
| XM_006720947.2:c.243C>T | XP_006721010.1:p.Ala81= | |
| XM_006720948.2:c.-16+224C>T | XP_006721011.1:n.-16+224C>T | |
| XM_006720947.4:c.243C>T | XP_006721010.1:p.Ala81= | |
| XM_006720948.4:c.-16+224C>T | XP_006721011.1:n.-16+224C>T | |
| NM_024589.3:c.243C>T MANE Select | NP_078865.1:p.Ala81= | |
| NR_046480.2:n.262+224C>T |