Linked Data
dbSNP Id:
rs759792214
ExAC:
16:4849720 G / A
gnomAD v2:
16-4849720-G-A
gnomAD v3:
16-4799719-G-A
gnomAD v4:
16-4799719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799719G>A , CM000678.2:g.4799719G>A | GRCh38 |
| NC_000016.9:g.4849720G>A , CM000678.1:g.4849720G>A | GRCh37 |
| NC_000016.8:g.4789721G>A | NCBI36 |
| NG_032174.1:g.8232C>T , LRG_455:g.8232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.399C>T MANE Select | ENSP00000322832.6:p.Ser133= | |
| ENST00000322048.11:c.399C>T | ENSP00000322832.5:p.Ser133= | |
| ENST00000585653.1:n.531C>T | ||
| ENST00000586153.1:c.144C>T | ENSP00000464699.1:p.Ser48= | |
| ENST00000586336.5:n.498C>T | ||
| ENST00000586504.5:c.179C>T | ||
| ENST00000587377.5:c.399C>T | ENSP00000468343.1:p.Ser133= | |
| ENST00000587711.5:c.118-1052C>T | ENSP00000467459.1:n.118-1052C>T | |
| ENST00000587843.5:c.*137C>T | ENSP00000465970.1:n.*137C>T | |
| ENST00000588201.5:c.*256C>T | ENSP00000466529.1:n.*256C>T | |
| ENST00000589543.5:n.356C>T | ||
| ENST00000591292.5:n.1728C>T | ||
| ENST00000591392.5:c.327C>T | ENSP00000467509.1:p.Ser109= | |
| ENST00000592019.1:c.76+42C>T | ||
| NM_024589.2:c.399C>T , LRG_455t1:c.399C>T | NP_078865.1:p.Ser133= | |
| NR_046480.1:n.723C>T | ||
| XM_006720947.2:c.399C>T | XP_006721010.1:p.Ser133= | |
| XM_006720948.2:c.129C>T | XP_006721011.1:p.Ser43= | |
| XM_006720947.4:c.399C>T | XP_006721010.1:p.Ser133= | |
| XM_006720948.4:c.129C>T | XP_006721011.1:p.Ser43= | |
| NM_024589.3:c.399C>T MANE Select | NP_078865.1:p.Ser133= | |
| NR_046480.2:n.406C>T |