Linked Data
dbSNP Id:
rs775663639
ExAC:
19:12758139 G / A
gnomAD v2:
19-12758139-G-A
gnomAD v4:
19-12647325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647325G>A , CM000681.2:g.12647325G>A | GRCh38 |
| NC_000019.9:g.12758139G>A , CM000681.1:g.12758139G>A | GRCh37 |
| NC_000019.8:g.12619139G>A | NCBI36 |
| NG_008318.1:g.24453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2831C>T MANE Select | ENSP00000395473.2:p.Ser944Phe | |
| ENST00000221363.8:c.2828C>T | ENSP00000221363.4:p.Ser943Phe | |
| ENST00000456935.6:c.2831C>T | ENSP00000395473.2:p.Ser944Phe | |
| ENST00000466794.5:n.3421C>T | ||
| ENST00000469423.1:n.260C>T | ||
| ENST00000493218.5:n.242C>T | ||
| ENST00000597692.1:c.390C>T | ||
| NM_000528.3:c.2831C>T | NP_000519.2:p.Ser944Phe | |
| NM_001173498.1:c.2828C>T | NP_001166969.1:p.Ser943Phe | |
| XM_005259913.1:c.2834C>T | XP_005259970.1:p.Ser945Phe | |
| XM_011528017.1:c.1730C>T | XP_011526319.1:p.Ser577Phe | |
| XM_005259913.2:c.2834C>T | XP_005259970.1:p.Ser945Phe | |
| XM_024451518.1:c.1730C>T | XP_024307286.1:p.Ser577Phe | |
| NM_000528.4:c.2831C>T MANE Select | NP_000519.2:p.Ser944Phe | |
| NM_001173498.2:c.2828C>T | NP_001166969.1:p.Ser943Phe |