Linked Data
dbSNP Id:
rs760123789
ExAC:
9:139393359 T / C
gnomAD v2:
9-139393359-T-C
gnomAD v4:
9-136498907-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136498907T>C , CM000671.2:g.136498907T>C | GRCh38 |
| NC_000009.11:g.139393359T>C , CM000671.1:g.139393359T>C | GRCh37 |
| NC_000009.10:g.138513180T>C | NCBI36 |
| NG_007458.1:g.51880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6172A>G MANE Select | ENSP00000498587.1:p.Asn2058Asp | |
| ENST00000679595.1:c.*1212A>G | ENSP00000506241.1:n.*1212A>G | |
| ENST00000679969.1:n.2768A>G | ||
| ENST00000680003.1:n.2504A>G | ||
| ENST00000680133.1:c.6058A>G | ENSP00000505319.1:p.Asn2020Asp | |
| ENST00000680218.1:c.6052A>G | ENSP00000505339.1:p.Asn2018Asp | |
| ENST00000680668.1:c.6058A>G | ENSP00000506336.1:p.Asn2020Asp | |
| ENST00000680778.1:c.3769A>G | ENSP00000506033.1:p.Asn1257Asp | |
| ENST00000680924.1:c.*3572A>G | ENSP00000506031.1:n.*3572A>G | |
| ENST00000681135.1:c.*3781A>G | ENSP00000506636.1:n.*3781A>G | |
| ENST00000681298.1:n.4277A>G | ||
| ENST00000681454.1:c.*5408A>G | ENSP00000505763.1:n.*5408A>G | |
| ENST00000277541.6:c.6172A>G | ENSP00000277541.6:p.Asn2058Asp | |
| NM_017617.3:c.6172A>G | NP_060087.3:p.Asn2058Asp | |
| XM_011518717.1:c.5473A>G | XP_011517019.1:p.Asn1825Asp | |
| NM_017617.5:c.6172A>G MANE Select | NP_060087.3:p.Asn2058Asp | |
| XM_011518717.2:c.5449A>G | XP_011517019.2:p.Asn1817Asp |