Linked Data
ClinVar Variation Id:
2043296
ClinVar RCV Id:
RCV003232707
dbSNP Id:
rs758774947
gnomAD v2:
5-176665310-G-C
gnomAD v3:
5-177238309-G-C
gnomAD v4:
5-177238309-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177238309G>C , CM000667.2:g.177238309G>C | GRCh38 |
| NC_000005.9:g.176665310G>C , CM000667.1:g.176665310G>C | GRCh37 |
| NC_000005.8:g.176597916G>C | NCBI36 |
| NG_009821.1:g.110231G>C , LRG_512:g.110231G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.3121G>C | ENSP00000423372.3:p.Glu1041Gln | |
| ENST00000347982.9:c.3121G>C | ENSP00000343209.5:p.Glu1041Gln | |
| ENST00000354179.9:c.3121G>C | ENSP00000346111.5:p.Glu1041Gln | |
| ENST00000510954.6:n.810G>C | ||
| ENST00000685206.1:n.3577G>C | ||
| ENST00000686993.1:c.3121G>C | ENSP00000510020.1:p.Glu1041Gln | |
| ENST00000687453.1:c.3685G>C | ENSP00000508426.1:p.Glu1229Gln | |
| ENST00000688613.1:n.3391G>C | ||
| ENST00000689326.1:c.3922-1447G>C | ENSP00000509594.1:n.3922-1447G>C | |
| ENST00000689345.1:c.3121G>C | ENSP00000509711.1:p.Glu1041Gln | |
| ENST00000689549.1:n.4141G>C | ||
| ENST00000439151.7:c.3994G>C MANE Select | ENSP00000395929.2:p.Glu1332Gln | |
| ENST00000347982.8:c.3187G>C | ENSP00000343209.4:p.Glu1063Gln | |
| ENST00000354179.8:c.3187G>C | ENSP00000346111.4:p.Glu1063Gln | |
| ENST00000375350.3:c.333-1447G>C | ENSP00000364499.3:n.333-1447G>C | |
| ENST00000439151.6:c.3994G>C | ENSP00000395929.2:p.Glu1332Gln | |
| NM_022455.4:c.3994G>C , LRG_512t1:c.3994G>C | NP_071900.2:p.Glu1332Gln | |
| NM_172349.2:c.3187G>C | NP_758859.1:p.Glu1063Gln | |
| XM_005265959.1:c.3994G>C | XP_005266016.1:p.Glu1332Gln | |
| XM_005265960.1:c.3187G>C | XP_005266017.1:p.Glu1063Gln | |
| XM_005265961.1:c.3187G>C | XP_005266018.1:p.Glu1063Gln | |
| XM_011534610.1:c.3994G>C | XP_011532912.1:p.Glu1332Gln | |
| XM_011534611.1:c.3994G>C | XP_011532913.1:p.Glu1332Gln | |
| XM_011534612.1:c.3574G>C | XP_011532914.1:p.Glu1192Gln | |
| XM_011534613.1:c.2938G>C | XP_011532915.1:p.Glu980Gln | |
| XM_011534614.1:c.3994G>C | XP_011532916.1:p.Glu1332Gln | |
| XM_011534615.1:c.3994G>C | XP_011532917.1:p.Glu1332Gln | |
| XM_011534616.1:c.3922-1447G>C | XP_011532918.1:n.3922-1447G>C | |
| XM_011534617.1:c.-74-1447G>C | XP_011532919.1:n.-74-1447G>C | |
| NM_001365684.1:c.3187G>C | NP_001352613.1:p.Glu1063Gln | |
| XM_024446150.1:c.3994G>C | XP_024301918.1:p.Glu1332Gln | |
| XM_024446151.1:c.3994G>C | XP_024301919.1:p.Glu1332Gln | |
| XM_024446152.1:c.3994G>C | XP_024301920.1:p.Glu1332Gln | |
| XM_024446153.1:c.3994G>C | XP_024301921.1:p.Glu1332Gln | |
| XM_024446154.1:c.3574G>C | XP_024301922.1:p.Glu1192Gln | |
| XM_024446155.1:c.3187G>C | XP_024301923.1:p.Glu1063Gln | |
| XM_024446156.1:c.3187G>C | XP_024301924.1:p.Glu1063Gln | |
| XM_024446158.1:c.3187G>C | XP_024301926.1:p.Glu1063Gln | |
| XM_024446159.1:c.2938G>C | XP_024301927.1:p.Glu980Gln | |
| XM_024446160.1:c.3994G>C | XP_024301928.1:p.Glu1332Gln | |
| XM_024446161.1:c.3994G>C | XP_024301929.1:p.Glu1332Gln | |
| XM_024446162.1:c.-74-1447G>C | XP_024301930.1:n.-74-1447G>C | |
| NM_022455.5:c.3994G>C MANE Select | NP_071900.2:p.Glu1332Gln | |
| NM_172349.3:c.3187G>C | NP_758859.1:p.Glu1063Gln |