Linked Data
ClinVar Variation Id:
477961
dbSNP Id:
rs200254239
ExAC:
9:139391682 C / T
gnomAD v2:
9-139391682-C-T
gnomAD v3:
9-136497230-C-T
gnomAD v4:
9-136497230-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497230C>T , CM000671.2:g.136497230C>T | GRCh38 |
| NC_000009.11:g.139391682C>T , CM000671.1:g.139391682C>T | GRCh37 |
| NC_000009.10:g.138511503C>T | NCBI36 |
| NG_007458.1:g.53557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6509G>A MANE Select | ENSP00000498587.1:p.Ser2170Asn | |
| ENST00000679595.1:c.*1549G>A | ENSP00000506241.1:n.*1549G>A | |
| ENST00000679969.1:n.3105G>A | ||
| ENST00000680003.1:n.2841G>A | ||
| ENST00000680133.1:c.6395G>A | ENSP00000505319.1:p.Ser2132Asn | |
| ENST00000680218.1:c.6389G>A | ENSP00000505339.1:p.Ser2130Asn | |
| ENST00000680668.1:c.6395G>A | ENSP00000506336.1:p.Ser2132Asn | |
| ENST00000680778.1:c.4106G>A | ENSP00000506033.1:p.Ser1369Asn | |
| ENST00000680924.1:c.*3909G>A | ENSP00000506031.1:n.*3909G>A | |
| ENST00000681135.1:c.*4118G>A | ENSP00000506636.1:n.*4118G>A | |
| ENST00000681298.1:n.4614G>A | ||
| ENST00000681454.1:c.*5745G>A | ENSP00000505763.1:n.*5745G>A | |
| ENST00000277541.6:c.6509G>A | ENSP00000277541.6:p.Ser2170Asn | |
| NM_017617.3:c.6509G>A | NP_060087.3:p.Ser2170Asn | |
| XM_011518717.1:c.5810G>A | XP_011517019.1:p.Ser1937Asn | |
| NM_017617.5:c.6509G>A MANE Select | NP_060087.3:p.Ser2170Asn | |
| XM_011518717.2:c.5786G>A | XP_011517019.2:p.Ser1929Asn |