Linked Data
ClinVar Variation Id:
325006
dbSNP Id:
rs148073122
ExAC:
17:72278090 A / G
gnomAD v2:
17-72278090-A-G
gnomAD v3:
17-74281951-A-G
gnomAD v4:
17-74281951-A-G
MyVariant Identifiers:
chr17:g.72278090A>G (hg19)
chr17:g.72278090_72278091delinsGC (hg19)
chr17:g.74281951A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74281951A>G , CM000679.2:g.74281951A>G | GRCh38 |
| NC_000017.10:g.72278090A>G , CM000679.1:g.72278090A>G | GRCh37 |
| NC_000017.9:g.69789685A>G | NCBI36 |
| NG_016865.1:g.12705A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.134A>G MANE Select | ENSP00000308312.6:p.Asn45Ser | |
| ENST00000311014.10:c.134A>G | ENSP00000308312.6:p.Asn45Ser | |
| ENST00000446837.2:c.134A>G | ENSP00000400252.2:p.Asn45Ser | |
| ENST00000579055.5:c.134A>G | ENSP00000462767.1:p.Asn45Ser | |
| ENST00000579490.5:c.305A>G | ENSP00000464197.1:p.Asn102Ser | |
| ENST00000582036.5:c.134A>G | ENSP00000461950.1:p.Asn45Ser | |
| NM_001172810.1:c.134A>G | NP_001166281.1:p.Asn45Ser | |
| NM_023036.4:c.134A>G | NP_075462.3:p.Asn45Ser | |
| XM_011525125.1:c.134A>G | XP_011523427.1:p.Asn45Ser | |
| XR_429915.2:n.256A>G | ||
| XR_429916.2:n.256A>G | ||
| XR_934518.1:n.258A>G | ||
| XR_934519.1:n.255A>G | ||
| XR_934520.1:n.331A>G | ||
| XR_934521.1:n.243A>G | ||
| XR_934522.1:n.231A>G | ||
| XR_934523.1:n.240A>G | ||
| XR_934524.1:n.258A>G | ||
| XR_934525.1:n.258A>G | ||
| XR_934526.1:n.258A>G | ||
| XR_934527.1:n.256A>G | ||
| XR_934528.1:n.256A>G | ||
| XR_934529.1:n.259A>G | ||
| XR_934530.1:n.332A>G | ||
| XR_934531.1:n.258A>G | ||
| NM_001172810.2:c.134A>G | NP_001166281.1:p.Asn45Ser | |
| NM_001353167.1:c.134A>G | NP_001340096.1:p.Asn45Ser | |
| NM_023036.5:c.134A>G | NP_075462.3:p.Asn45Ser | |
| NR_148379.1:n.281A>G | ||
| XM_011525125.2:c.134A>G | XP_011523427.1:p.Asn45Ser | |
| XM_024450874.1:c.134A>G | XP_024306642.1:p.Asn45Ser | |
| XM_024450875.1:c.134A>G | XP_024306643.1:p.Asn45Ser | |
| XM_024450876.1:c.134A>G | XP_024306644.1:p.Asn45Ser | |
| XM_024450877.1:c.134A>G | XP_024306645.1:p.Asn45Ser | |
| XM_024450878.1:c.134A>G | XP_024306646.1:p.Asn45Ser | |
| XM_024450879.1:c.134A>G | XP_024306647.1:p.Asn45Ser | |
| XM_024450880.1:c.134A>G | XP_024306648.1:p.Asn45Ser | |
| XM_024450881.1:c.134A>G | XP_024306649.1:p.Asn45Ser | |
| XM_024450882.1:c.134A>G | XP_024306650.1:p.Asn45Ser | |
| XM_024450883.1:c.134A>G | XP_024306651.1:p.Asn45Ser | |
| XM_024450884.1:c.134A>G | XP_024306652.1:p.Asn45Ser | |
| XM_024450885.1:c.-174A>G | XP_024306653.1:n.-174A>G | |
| XM_024450886.1:c.-174A>G | XP_024306654.1:n.-174A>G | |
| NM_023036.6:c.134A>G MANE Select | NP_075462.3:p.Asn45Ser | |
| NM_001172810.3:c.134A>G | NP_001166281.1:p.Asn45Ser | |
| NM_001353167.2:c.134A>G | NP_001340096.1:p.Asn45Ser | |
| NR_148379.2:n.257A>G |