Linked Data
dbSNP Id:
rs11544238
ExAC:
12:57870155 A / G
gnomAD v2:
12-57870155-A-G
gnomAD v3:
12-57476372-A-G
gnomAD v4:
12-57476372-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57476372A>G , CM000674.2:g.57476372A>G | GRCh38 |
| NC_000012.11:g.57870155A>G , CM000674.1:g.57870155A>G | GRCh37 |
| NC_000012.10:g.56156422A>G | NCBI36 |
| NG_023205.1:g.8479T>C | |
| NG_023205.2:g.17443T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393791.8:c.1108T>C (ARHGAP9) MANE Select | ENSP00000377380.3:p.Ser370Pro | |
| ENST00000393797.7:c.1108T>C (ARHGAP9) | ENSP00000377386.3:p.Ser370Pro | |
| ENST00000550288.6:c.1108T>C (ARHGAP9) | ENSP00000473445.2:p.Ser370Pro | |
| ENST00000393791.7:c.1108T>C (ARHGAP9) | ENSP00000377380.3:p.Ser370Pro | |
| ENST00000393797.6:c.1321T>C (ARHGAP9) | ENSP00000377386.2:p.Ser441Pro | |
| ENST00000424809.6:c.1108T>C (ARHGAP9) | ENSP00000394307.2:p.Ser370Pro | |
| ENST00000430041.6:c.556T>C (ARHGAP9) | ENSP00000397950.2:p.Ser186Pro | |
| ENST00000546200.5:n.860T>C (ARHGAP9) | ||
| ENST00000548139.5:c.556T>C (ARHGAP9) | ENSP00000449829.1:p.Ser186Pro | |
| ENST00000548148.5:n.853T>C (ARHGAP9) | ||
| ENST00000549133.1:n.198+730A>G (MARS1) | ||
| ENST00000550288.5:c.1345T>C (ARHGAP9) | ENSP00000473445.1:p.Ser449Pro | |
| ENST00000550454.5:n.553T>C (ARHGAP9) | ||
| ENST00000552953.5:n.135T>C (ARHGAP9) | ||
| NM_001080156.1:c.556T>C (ARHGAP9) | NP_001073625.1:p.Ser186Pro | |
| NM_001080157.1:c.1108T>C (ARHGAP9) | NP_001073626.1:p.Ser370Pro | |
| NM_032496.2:c.1108T>C (ARHGAP9) | NP_115885.2:p.Ser370Pro | |
| XM_005269082.2:c.556T>C (ARHGAP9) | XP_005269139.1:p.Ser186Pro | |
| XM_005269083.2:c.556T>C (ARHGAP9) | XP_005269140.1:p.Ser186Pro | |
| XM_005269084.2:c.463T>C (ARHGAP9) | XP_005269141.1:p.Ser155Pro | |
| XM_005269085.2:c.463T>C (ARHGAP9) | XP_005269142.1:p.Ser155Pro | |
| XM_006719560.1:c.1108T>C (ARHGAP9) | XP_006719623.1:p.Ser370Pro | |
| XM_011538656.1:c.1108T>C (ARHGAP9) | XP_011536958.1:p.Ser370Pro | |
| XM_011538657.1:c.1015T>C (ARHGAP9) | XP_011536959.1:p.Ser339Pro | |
| XM_011538658.1:c.1015T>C (ARHGAP9) | XP_011536960.1:p.Ser339Pro | |
| XM_011538659.1:c.1108T>C (ARHGAP9) | XP_011536961.1:p.Ser370Pro | |
| XM_011538660.1:c.1108T>C (ARHGAP9) | XP_011536962.1:p.Ser370Pro | |
| XM_011538661.1:c.1108T>C (ARHGAP9) | XP_011536963.1:p.Ser370Pro | |
| XM_011538662.1:c.1108T>C (ARHGAP9) | XP_011536964.1:p.Ser370Pro | |
| XM_011538663.1:c.1108T>C (ARHGAP9) | XP_011536965.1:p.Ser370Pro | |
| NM_001080156.2:c.556T>C (ARHGAP9) | NP_001073625.1:p.Ser186Pro | |
| NM_001319850.1:c.1321T>C (ARHGAP9) | NP_001306779.1:p.Ser441Pro | |
| NM_001319851.1:c.118T>C (ARHGAP9) | NP_001306780.1:p.Ser40Pro | |
| NM_001319852.1:c.556T>C (ARHGAP9) | NP_001306781.1:p.Ser186Pro | |
| NM_032496.3:c.1108T>C (ARHGAP9) | NP_115885.2:p.Ser370Pro | |
| XM_011538656.2:c.1108T>C (ARHGAP9) | XP_011536958.1:p.Ser370Pro | |
| XM_011538657.2:c.1015T>C (ARHGAP9) | XP_011536959.1:p.Ser339Pro | |
| XM_011538658.2:c.1015T>C (ARHGAP9) | XP_011536960.1:p.Ser339Pro | |
| XM_011538659.2:c.1108T>C (ARHGAP9) | XP_011536961.1:p.Ser370Pro | |
| XM_017019800.1:c.556T>C (ARHGAP9) | XP_016875289.1:p.Ser186Pro | |
| XM_017019801.1:c.556T>C (ARHGAP9) | XP_016875290.1:p.Ser186Pro | |
| XM_017019802.1:c.463T>C (ARHGAP9) | XP_016875291.1:p.Ser155Pro | |
| XM_017019803.1:c.556T>C (ARHGAP9) | XP_016875292.1:p.Ser186Pro | |
| XM_017019804.1:c.463T>C (ARHGAP9) | XP_016875293.1:p.Ser155Pro | |
| XR_001748840.1:n.1185T>C (ARHGAP9) | ||
| XR_001748841.1:n.1185T>C (ARHGAP9) | ||
| XR_001748842.1:n.1185T>C (ARHGAP9) | ||
| XR_001748843.1:n.1185T>C (ARHGAP9) | ||
| NM_001319850.2:c.1108T>C (ARHGAP9) | NP_001306779.2:p.Ser370Pro | |
| NM_001367422.1:c.556T>C (ARHGAP9) | NP_001354351.1:p.Ser186Pro | |
| NM_001367423.1:c.463T>C (ARHGAP9) | NP_001354352.1:p.Ser155Pro | |
| NM_001367424.1:c.556T>C (ARHGAP9) | NP_001354353.1:p.Ser186Pro | |
| NM_001367425.1:c.463T>C (ARHGAP9) | NP_001354354.1:p.Ser155Pro | |
| NM_001367426.1:c.556T>C (ARHGAP9) | NP_001354355.1:p.Ser186Pro | |
| NM_032496.4:c.1108T>C (ARHGAP9) MANE Select | NP_115885.2:p.Ser370Pro | |
| NM_001080156.3:c.556T>C (ARHGAP9) | NP_001073625.1:p.Ser186Pro | |
| NM_001080157.2:c.1108T>C (ARHGAP9) | NP_001073626.1:p.Ser370Pro | |
| NM_001319851.2:c.118T>C (ARHGAP9) | NP_001306780.1:p.Ser40Pro | |
| NM_001319852.2:c.556T>C (ARHGAP9) | NP_001306781.1:p.Ser186Pro |