Linked Data
dbSNP Id:
rs761882293
ExAC:
16:81301606 G / A
gnomAD v2:
16-81301606-G-A
gnomAD v4:
16-81268001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81268001G>A , CM000678.2:g.81268001G>A | GRCh38 |
| NC_000016.9:g.81301606G>A , CM000678.1:g.81301606G>A | GRCh37 |
| NC_000016.8:g.79859107G>A | NCBI36 |
| NG_012171.1:g.34311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258168.7:c.713G>A MANE Select | ENSP00000258168.2:p.Ser238Asn | |
| ENST00000258168.6:c.713G>A | ENSP00000258168.2:p.Ser238Asn | |
| ENST00000563804.5:c.*337G>A | ENSP00000457910.1:n.*337G>A | |
| NM_017429.2:c.713G>A | NP_059125.2:p.Ser238Asn | |
| XM_011523109.1:c.713G>A | XP_011521411.1:p.Ser238Asn | |
| XM_011523110.1:c.164G>A | XP_011521412.1:p.Ser55Asn | |
| XM_011523109.2:c.713G>A | XP_011521411.1:p.Ser238Asn | |
| XM_017023286.2:c.713G>A | XP_016878775.1:p.Ser238Asn | |
| XM_017023287.2:c.713G>A | XP_016878776.1:p.Ser238Asn | |
| XM_017023288.2:c.713G>A | XP_016878777.1:p.Ser238Asn | |
| XM_017023289.1:c.-24-41G>A | XP_016878778.1:n.-24-41G>A | |
| XR_002957813.1:n.1081-41G>A | ||
| NM_017429.3:c.713G>A MANE Select | NP_059125.2:p.Ser238Asn |