Linked Data
ClinVar Variation Id:
1582344
ClinVar RCV Id:
RCV003232535
dbSNP Id:
rs777941389
ExAC:
5:176665390 G / A
gnomAD v2:
5-176665390-G-A
gnomAD v4:
5-177238389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177238389G>A , CM000667.2:g.177238389G>A | GRCh38 |
| NC_000005.9:g.176665390G>A , CM000667.1:g.176665390G>A | GRCh37 |
| NC_000005.8:g.176597996G>A | NCBI36 |
| NG_009821.1:g.110311G>A , LRG_512:g.110311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.3201G>A | ENSP00000423372.3:p.Gln1067= | |
| ENST00000347982.9:c.3201G>A | ENSP00000343209.5:p.Gln1067= | |
| ENST00000354179.9:c.3201G>A | ENSP00000346111.5:p.Gln1067= | |
| ENST00000510954.6:n.890G>A | ||
| ENST00000685206.1:n.3657G>A | ||
| ENST00000686993.1:c.3201G>A | ENSP00000510020.1:p.Gln1067= | |
| ENST00000687453.1:c.3765G>A | ENSP00000508426.1:p.Gln1255= | |
| ENST00000688613.1:n.3471G>A | ||
| ENST00000689326.1:c.3922-1367G>A | ENSP00000509594.1:n.3922-1367G>A | |
| ENST00000689345.1:c.3201G>A | ENSP00000509711.1:p.Gln1067= | |
| ENST00000689549.1:n.4221G>A | ||
| ENST00000439151.7:c.4074G>A MANE Select | ENSP00000395929.2:p.Gln1358= | |
| ENST00000347982.8:c.3267G>A | ENSP00000343209.4:p.Gln1089= | |
| ENST00000354179.8:c.3267G>A | ENSP00000346111.4:p.Gln1089= | |
| ENST00000375350.3:c.333-1367G>A | ENSP00000364499.3:n.333-1367G>A | |
| ENST00000439151.6:c.4074G>A | ENSP00000395929.2:p.Gln1358= | |
| NM_022455.4:c.4074G>A , LRG_512t1:c.4074G>A | NP_071900.2:p.Gln1358= | |
| NM_172349.2:c.3267G>A | NP_758859.1:p.Gln1089= | |
| XM_005265959.1:c.4074G>A | XP_005266016.1:p.Gln1358= | |
| XM_005265960.1:c.3267G>A | XP_005266017.1:p.Gln1089= | |
| XM_005265961.1:c.3267G>A | XP_005266018.1:p.Gln1089= | |
| XM_011534610.1:c.4074G>A | XP_011532912.1:p.Gln1358= | |
| XM_011534611.1:c.4074G>A | XP_011532913.1:p.Gln1358= | |
| XM_011534612.1:c.3654G>A | XP_011532914.1:p.Gln1218= | |
| XM_011534613.1:c.3018G>A | XP_011532915.1:p.Gln1006= | |
| XM_011534614.1:c.4074G>A | XP_011532916.1:p.Gln1358= | |
| XM_011534615.1:c.4074G>A | XP_011532917.1:p.Gln1358= | |
| XM_011534616.1:c.3922-1367G>A | XP_011532918.1:n.3922-1367G>A | |
| XM_011534617.1:c.-74-1367G>A | XP_011532919.1:n.-74-1367G>A | |
| NM_001365684.1:c.3267G>A | NP_001352613.1:p.Gln1089= | |
| XM_024446150.1:c.4074G>A | XP_024301918.1:p.Gln1358= | |
| XM_024446151.1:c.4074G>A | XP_024301919.1:p.Gln1358= | |
| XM_024446152.1:c.4074G>A | XP_024301920.1:p.Gln1358= | |
| XM_024446153.1:c.4074G>A | XP_024301921.1:p.Gln1358= | |
| XM_024446154.1:c.3654G>A | XP_024301922.1:p.Gln1218= | |
| XM_024446155.1:c.3267G>A | XP_024301923.1:p.Gln1089= | |
| XM_024446156.1:c.3267G>A | XP_024301924.1:p.Gln1089= | |
| XM_024446158.1:c.3267G>A | XP_024301926.1:p.Gln1089= | |
| XM_024446159.1:c.3018G>A | XP_024301927.1:p.Gln1006= | |
| XM_024446160.1:c.4074G>A | XP_024301928.1:p.Gln1358= | |
| XM_024446161.1:c.4074G>A | XP_024301929.1:p.Gln1358= | |
| XM_024446162.1:c.-74-1367G>A | XP_024301930.1:n.-74-1367G>A | |
| NM_022455.5:c.4074G>A MANE Select | NP_071900.2:p.Gln1358= | |
| NM_172349.3:c.3267G>A | NP_758859.1:p.Gln1089= |