Linked Data
ClinVar Variation Id:
325022
dbSNP Id:
rs376541043
ExAC:
17:72308249 T / C
gnomAD v2:
17-72308249-T-C
gnomAD v3:
17-74312110-T-C
gnomAD v4:
17-74312110-T-C
MyVariant Identifiers:
chr17:g.72308249T>C (hg19)
chr17:g.72308249_72308252delinsCGAG (hg19)
chr17:g.74312110T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74312110T>C , CM000679.2:g.74312110T>C | GRCh38 |
| NC_000017.10:g.72308249T>C , CM000679.1:g.72308249T>C | GRCh37 |
| NC_000017.9:g.69819844T>C | NCBI36 |
| NG_016865.1:g.42864T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.1602T>C MANE Select | ENSP00000308312.6:p.Asp534= | |
| ENST00000311014.10:c.1602T>C | ENSP00000308312.6:p.Asp534= | |
| ENST00000446837.2:c.1602T>C | ENSP00000400252.2:p.Asp534= | |
| ENST00000579055.5:c.*938+35T>C | ENSP00000462767.1:n.*938+35T>C | |
| ENST00000579490.5:c.1773T>C | ENSP00000464197.1:p.Asp591= | |
| ENST00000582036.5:c.1566T>C | ENSP00000461950.1:p.Asp522= | |
| NM_001172810.1:c.1566T>C | NP_001166281.1:p.Asp522= | |
| NM_023036.4:c.1602T>C | NP_075462.3:p.Asp534= | |
| XM_011525125.1:c.1602T>C | XP_011523427.1:p.Asp534= | |
| XR_429915.2:n.1688T>C | ||
| XR_429916.2:n.1616+1947T>C | ||
| XR_934518.1:n.1726T>C | ||
| XR_934519.1:n.1723T>C | ||
| XR_934520.1:n.1799T>C | ||
| XR_934521.1:n.1711T>C | ||
| XR_934522.1:n.1699T>C | ||
| XR_934523.1:n.1708T>C | ||
| XR_934524.1:n.1726T>C | ||
| XR_934525.1:n.1690T>C | ||
| XR_934526.1:n.1612T>C | ||
| XR_934527.1:n.1689+35T>C | ||
| XR_934528.1:n.1689+35T>C | ||
| XR_934529.1:n.1605T>C | ||
| XR_934530.1:n.1678T>C | ||
| XR_934531.1:n.1569+35T>C | ||
| XR_934970.1:n.495A>G | ||
| XR_934971.1:n.329A>G | ||
| NM_001172810.2:c.1566T>C | NP_001166281.1:p.Asp522= | |
| NM_001353167.1:c.1602T>C | NP_001340096.1:p.Asp534= | |
| NM_023036.5:c.1602T>C | NP_075462.3:p.Asp534= | |
| NR_148379.1:n.1592+35T>C | ||
| XM_011525125.2:c.1602T>C | XP_011523427.1:p.Asp534= | |
| XM_024450874.1:c.1602T>C | XP_024306642.1:p.Asp534= | |
| XM_024450875.1:c.1602T>C | XP_024306643.1:p.Asp534= | |
| XM_024450876.1:c.1602T>C | XP_024306644.1:p.Asp534= | |
| XM_024450877.1:c.1602T>C | XP_024306645.1:p.Asp534= | |
| XM_024450878.1:c.1602T>C | XP_024306646.1:p.Asp534= | |
| XM_024450879.1:c.1602T>C | XP_024306647.1:p.Asp534= | |
| XM_024450880.1:c.1566T>C | XP_024306648.1:p.Asp522= | |
| XM_024450881.1:c.1488T>C | XP_024306649.1:p.Asp496= | |
| XM_024450882.1:c.1566T>C | XP_024306650.1:p.Asp522= | |
| XM_024450883.1:c.1567+35T>C | XP_024306651.1:n.1567+35T>C | |
| XM_024450884.1:c.1567+35T>C | XP_024306652.1:n.1567+35T>C | |
| XM_024450885.1:c.1173T>C | XP_024306653.1:p.Asp391= | |
| XM_024450886.1:c.1173T>C | XP_024306654.1:p.Asp391= | |
| XR_934970.2:n.499A>G | ||
| XR_934971.2:n.334A>G | ||
| NM_023036.6:c.1602T>C MANE Select | NP_075462.3:p.Asp534= | |
| NM_001172810.3:c.1566T>C | NP_001166281.1:p.Asp522= | |
| NM_001353167.2:c.1602T>C | NP_001340096.1:p.Asp534= | |
| NR_148379.2:n.1568+35T>C |