Linked Data
dbSNP Id:
rs539039472
gnomAD v2:
17-72297266-A-G
gnomAD v3:
17-74301127-A-G
gnomAD v4:
17-74301127-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74301127A>G , CM000679.2:g.74301127A>G | GRCh38 |
| NC_000017.10:g.72297266A>G , CM000679.1:g.72297266A>G | GRCh37 |
| NC_000017.9:g.69808861A>G | NCBI36 |
| NG_016865.1:g.31881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.946A>G MANE Select | ENSP00000308312.6:p.Asn316Asp | |
| ENST00000311014.10:c.946A>G | ENSP00000308312.6:p.Asn316Asp | |
| ENST00000446837.2:c.946A>G | ENSP00000400252.2:p.Asn316Asp | |
| ENST00000579055.5:c.*317A>G | ENSP00000462767.1:n.*317A>G | |
| ENST00000579490.5:c.1117A>G | ENSP00000464197.1:p.Asn373Asp | |
| ENST00000582036.5:c.946A>G | ENSP00000461950.1:p.Asn316Asp | |
| NM_001172810.1:c.946A>G | NP_001166281.1:p.Asn316Asp | |
| NM_023036.4:c.946A>G | NP_075462.3:p.Asn316Asp | |
| XM_011525125.1:c.946A>G | XP_011523427.1:p.Asn316Asp | |
| XR_429915.2:n.1068A>G | ||
| XR_429916.2:n.1068A>G | ||
| XR_934518.1:n.1070A>G | ||
| XR_934519.1:n.1067A>G | ||
| XR_934520.1:n.1143A>G | ||
| XR_934521.1:n.1055A>G | ||
| XR_934522.1:n.1043A>G | ||
| XR_934523.1:n.1052A>G | ||
| XR_934524.1:n.1070A>G | ||
| XR_934525.1:n.1070A>G | ||
| XR_934526.1:n.956A>G | ||
| XR_934527.1:n.1068A>G | ||
| XR_934528.1:n.1068A>G | ||
| XR_934529.1:n.949A>G | ||
| XR_934530.1:n.1022A>G | ||
| XR_934531.1:n.948A>G | ||
| NM_001172810.2:c.946A>G | NP_001166281.1:p.Asn316Asp | |
| NM_001353167.1:c.946A>G | NP_001340096.1:p.Asn316Asp | |
| NM_023036.5:c.946A>G | NP_075462.3:p.Asn316Asp | |
| NR_148379.1:n.971A>G | ||
| XM_011525125.2:c.946A>G | XP_011523427.1:p.Asn316Asp | |
| XM_024450874.1:c.946A>G | XP_024306642.1:p.Asn316Asp | |
| XM_024450875.1:c.946A>G | XP_024306643.1:p.Asn316Asp | |
| XM_024450876.1:c.946A>G | XP_024306644.1:p.Asn316Asp | |
| XM_024450877.1:c.946A>G | XP_024306645.1:p.Asn316Asp | |
| XM_024450878.1:c.946A>G | XP_024306646.1:p.Asn316Asp | |
| XM_024450879.1:c.946A>G | XP_024306647.1:p.Asn316Asp | |
| XM_024450880.1:c.946A>G | XP_024306648.1:p.Asn316Asp | |
| XM_024450881.1:c.832A>G | XP_024306649.1:p.Asn278Asp | |
| XM_024450882.1:c.946A>G | XP_024306650.1:p.Asn316Asp | |
| XM_024450883.1:c.946A>G | XP_024306651.1:p.Asn316Asp | |
| XM_024450884.1:c.946A>G | XP_024306652.1:p.Asn316Asp | |
| XM_024450885.1:c.517A>G | XP_024306653.1:p.Asn173Asp | |
| XM_024450886.1:c.517A>G | XP_024306654.1:p.Asn173Asp | |
| NM_023036.6:c.946A>G MANE Select | NP_075462.3:p.Asn316Asp | |
| NM_001172810.3:c.946A>G | NP_001166281.1:p.Asn316Asp | |
| NM_001353167.2:c.946A>G | NP_001340096.1:p.Asn316Asp | |
| NR_148379.2:n.947A>G |