Linked Data
ClinVar Variation Id:
328649
ClinVar RCV Id:
RCV000305379
dbSNP Id:
rs113406972
ExAC:
19:19312510 G / A
gnomAD v2:
19-19312510-G-A
gnomAD v3:
19-19201701-G-A
gnomAD v4:
19-19201701-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19201701G>A , CM000681.2:g.19201701G>A | GRCh38 |
| NC_000019.9:g.19312510G>A , CM000681.1:g.19312510G>A | GRCh37 |
| NC_000019.8:g.19173510G>A | NCBI36 |
| NG_007432.1:g.14503G>A , LRG_102:g.14503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303088.9:c.765G>A (RFXANK) MANE Select | ENSP00000305071.2:p.Val255= | |
| ENST00000331552.12:c.*224C>T (NR2C2AP) MANE Select | ENSP00000332823.6:n.*224C>T | |
| ENST00000303088.8:c.765G>A (RFXANK) | ENSP00000305071.2:p.Val255= | |
| ENST00000331552.11:c.*224C>T (NR2C2AP) | ENSP00000332823.5:n.*224C>T | |
| ENST00000392324.8:c.696G>A (RFXANK) | ENSP00000376138.3:p.Val232= | |
| ENST00000407360.7:c.765G>A (RFXANK) | ENSP00000384572.3:p.Val255= | |
| ENST00000420605.7:c.415-138C>T (NR2C2AP) | ENSP00000402756.1:n.415-138C>T | |
| ENST00000456252.7:c.699G>A (RFXANK) | ENSP00000409138.2:p.Val233= | |
| ENST00000536253.1:c.209G>A (RFXANK) | ENSP00000440321.2:n.209G>A | |
| ENST00000537399.1:n.1290C>T (NR2C2AP) | ||
| ENST00000540977.1:n.221G>A (RFXANK) | ||
| ENST00000544883.5:c.*373C>T (NR2C2AP) | ENSP00000438092.1:n.*373C>T | |
| ENST00000544923.5:c.126G>A (RFXANK) | ENSP00000441042.1:p.Val42= | |
| NM_001278727.1:c.699G>A (RFXANK) | NP_001265656.1:p.Val233= | |
| NM_001278728.1:c.696G>A (RFXANK) | NP_001265657.1:p.Val232= | |
| NM_001300945.1:c.415-138C>T (NR2C2AP) | NP_001287874.1:n.415-138C>T | |
| NM_003721.3:c.765G>A (RFXANK) | NP_003712.1:p.Val255= | |
| NM_134440.2:c.696G>A (RFXANK) | NP_604389.1:p.Val232= | |
| NM_176880.5:c.*224C>T (NR2C2AP) | NP_795361.1:n.*224C>T | |
| XM_005260134.3:c.765G>A (RFXANK) | XP_005260191.1:p.Val255= | |
| XM_005260135.2:c.765G>A (RFXANK) | XP_005260192.1:p.Val255= | |
| XM_005260136.3:c.762G>A (RFXANK) | XP_005260193.1:p.Val254= | |
| XM_005260137.3:c.762G>A (RFXANK) | XP_005260194.1:p.Val254= | |
| XM_006722930.2:c.762G>A (RFXANK) | XP_006722993.1:p.Val254= | |
| XM_011527688.1:c.421-138C>T (NR2C2AP) | XP_011525990.1:n.421-138C>T | |
| XM_005260134.5:c.765G>A (RFXANK) | XP_005260191.1:p.Val255= | |
| XM_005260135.3:c.765G>A (RFXANK) | XP_005260192.1:p.Val255= | |
| XM_005260136.5:c.762G>A (RFXANK) | XP_005260193.1:p.Val254= | |
| XM_005260137.4:c.762G>A (RFXANK) | XP_005260194.1:p.Val254= | |
| XM_006722930.4:c.762G>A (RFXANK) | XP_006722993.1:p.Val254= | |
| XM_011527688.3:c.421-138C>T (NR2C2AP) | XP_011525990.1:n.421-138C>T | |
| XM_017027415.1:c.765G>A (RFXANK) | XP_016882904.1:p.Val255= | |
| XM_017027416.1:c.699G>A (RFXANK) | XP_016882905.1:p.Val233= | |
| NM_003721.4:c.765G>A (RFXANK) MANE Select | NP_003712.1:p.Val255= | |
| NM_001300945.2:c.415-138C>T (NR2C2AP) | NP_001287874.1:n.415-138C>T | |
| NM_001370233.1:c.765G>A (RFXANK) | NP_001357162.1:p.Val255= | |
| NM_001370234.1:c.699G>A (RFXANK) | NP_001357163.1:p.Val233= | |
| NM_001370235.1:c.762G>A (RFXANK) | NP_001357164.1:p.Val254= | |
| NM_001370236.1:c.762G>A (RFXANK) | NP_001357165.1:p.Val254= | |
| NM_001370237.1:c.837G>A (RFXANK) | NP_001357166.1:p.Val279= | |
| NM_001370238.1:c.840G>A (RFXANK) | NP_001357167.1:p.Val280= | |
| NM_176880.6:c.*224C>T (NR2C2AP) MANE Select | NP_795361.1:n.*224C>T | |
| NM_001278727.2:c.699G>A (RFXANK) | NP_001265656.1:p.Val233= | |
| NM_001278728.2:c.696G>A (RFXANK) | NP_001265657.1:p.Val232= | |
| NM_134440.3:c.696G>A (RFXANK) | NP_604389.1:p.Val232= |