Linked Data
ClinVar Variation Id:
159339
dbSNP Id:
rs140229717
ExAC:
5:176675289 C / T
gnomAD v2:
5-176675289-C-T
gnomAD v3:
5-177248288-C-T
gnomAD v4:
5-177248288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177248288C>T , CM000667.2:g.177248288C>T | GRCh38 |
| NC_000005.9:g.176675289C>T , CM000667.1:g.176675289C>T | GRCh37 |
| NC_000005.8:g.176607895C>T | NCBI36 |
| NG_009821.1:g.120210C>T , LRG_512:g.120210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.3732C>T | ENSP00000423372.3:p.Arg1244= | |
| ENST00000347982.9:c.3732C>T | ENSP00000343209.5:p.Arg1244= | |
| ENST00000354179.9:c.3732C>T | ENSP00000346111.5:p.Arg1244= | |
| ENST00000685206.1:n.4188C>T | ||
| ENST00000686993.1:c.3732C>T | ENSP00000510020.1:p.Arg1244= | |
| ENST00000687453.1:c.4296C>T | ENSP00000508426.1:p.Arg1432= | |
| ENST00000688613.1:n.4002C>T | ||
| ENST00000689345.1:c.3732C>T | ENSP00000509711.1:p.Arg1244= | |
| ENST00000689549.1:n.4752C>T | ||
| ENST00000439151.7:c.4605C>T MANE Select | ENSP00000395929.2:p.Arg1535= | |
| ENST00000347982.8:c.3798C>T | ENSP00000343209.4:p.Arg1266= | |
| ENST00000354179.8:c.3798C>T | ENSP00000346111.4:p.Arg1266= | |
| ENST00000439151.6:c.4605C>T | ENSP00000395929.2:p.Arg1535= | |
| NM_022455.4:c.4605C>T , LRG_512t1:c.4605C>T | NP_071900.2:p.Arg1535= | |
| NM_172349.2:c.3798C>T | NP_758859.1:p.Arg1266= | |
| XM_005265959.1:c.4605C>T | XP_005266016.1:p.Arg1535= | |
| XM_005265960.1:c.3798C>T | XP_005266017.1:p.Arg1266= | |
| XM_005265961.1:c.3798C>T | XP_005266018.1:p.Arg1266= | |
| XM_005265962.3:c.99C>T | XP_005266019.1:p.Arg33= | |
| XM_011534610.1:c.4605C>T | XP_011532912.1:p.Arg1535= | |
| XM_011534611.1:c.4605C>T | XP_011532913.1:p.Arg1535= | |
| XM_011534612.1:c.4185C>T | XP_011532914.1:p.Arg1395= | |
| XM_011534613.1:c.3549C>T | XP_011532915.1:p.Arg1183= | |
| XM_011534614.1:c.4605C>T | XP_011532916.1:p.Arg1535= | |
| XM_011534617.1:c.339C>T | XP_011532919.1:p.Arg113= | |
| NM_001365684.1:c.3798C>T | NP_001352613.1:p.Arg1266= | |
| XM_024446150.1:c.4605C>T | XP_024301918.1:p.Arg1535= | |
| XM_024446151.1:c.4605C>T | XP_024301919.1:p.Arg1535= | |
| XM_024446152.1:c.4605C>T | XP_024301920.1:p.Arg1535= | |
| XM_024446153.1:c.4605C>T | XP_024301921.1:p.Arg1535= | |
| XM_024446154.1:c.4185C>T | XP_024301922.1:p.Arg1395= | |
| XM_024446155.1:c.3798C>T | XP_024301923.1:p.Arg1266= | |
| XM_024446156.1:c.3798C>T | XP_024301924.1:p.Arg1266= | |
| XM_024446158.1:c.3798C>T | XP_024301926.1:p.Arg1266= | |
| XM_024446159.1:c.3549C>T | XP_024301927.1:p.Arg1183= | |
| XM_024446160.1:c.4605C>T | XP_024301928.1:p.Arg1535= | |
| XM_024446162.1:c.339C>T | XP_024301930.1:p.Arg113= | |
| XM_024446163.1:c.99C>T | XP_024301931.1:p.Arg33= | |
| NM_022455.5:c.4605C>T MANE Select | NP_071900.2:p.Arg1535= | |
| NM_172349.3:c.3798C>T | NP_758859.1:p.Arg1266= |