Linked Data
ClinVar Variation Id:
352887
dbSNP Id:
rs747298351
ExAC:
5:176665503 C / T
gnomAD v2:
5-176665503-C-T
gnomAD v3:
5-177238502-C-T
gnomAD v4:
5-177238502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177238502C>T , CM000667.2:g.177238502C>T | GRCh38 |
| NC_000005.9:g.176665503C>T , CM000667.1:g.176665503C>T | GRCh37 |
| NC_000005.8:g.176598109C>T | NCBI36 |
| NG_009821.1:g.110424C>T , LRG_512:g.110424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.3314C>T | ENSP00000423372.3:p.Thr1105Met | |
| ENST00000347982.9:c.3314C>T | ENSP00000343209.5:p.Thr1105Met | |
| ENST00000354179.9:c.3314C>T | ENSP00000346111.5:p.Thr1105Met | |
| ENST00000510954.6:n.1003C>T | ||
| ENST00000685206.1:n.3770C>T | ||
| ENST00000686993.1:c.3314C>T | ENSP00000510020.1:p.Thr1105Met | |
| ENST00000687453.1:c.3878C>T | ENSP00000508426.1:p.Thr1293Met | |
| ENST00000688613.1:n.3584C>T | ||
| ENST00000689326.1:c.3922-1254C>T | ENSP00000509594.1:n.3922-1254C>T | |
| ENST00000689345.1:c.3314C>T | ENSP00000509711.1:p.Thr1105Met | |
| ENST00000689549.1:n.4334C>T | ||
| ENST00000439151.7:c.4187C>T MANE Select | ENSP00000395929.2:p.Thr1396Met | |
| ENST00000347982.8:c.3380C>T | ENSP00000343209.4:p.Thr1127Met | |
| ENST00000354179.8:c.3380C>T | ENSP00000346111.4:p.Thr1127Met | |
| ENST00000375350.3:c.333-1254C>T | ENSP00000364499.3:n.333-1254C>T | |
| ENST00000439151.6:c.4187C>T | ENSP00000395929.2:p.Thr1396Met | |
| NM_022455.4:c.4187C>T , LRG_512t1:c.4187C>T | NP_071900.2:p.Thr1396Met | |
| NM_172349.2:c.3380C>T | NP_758859.1:p.Thr1127Met | |
| XM_005265959.1:c.4187C>T | XP_005266016.1:p.Thr1396Met | |
| XM_005265960.1:c.3380C>T | XP_005266017.1:p.Thr1127Met | |
| XM_005265961.1:c.3380C>T | XP_005266018.1:p.Thr1127Met | |
| XM_011534610.1:c.4187C>T | XP_011532912.1:p.Thr1396Met | |
| XM_011534611.1:c.4187C>T | XP_011532913.1:p.Thr1396Met | |
| XM_011534612.1:c.3767C>T | XP_011532914.1:p.Thr1256Met | |
| XM_011534613.1:c.3131C>T | XP_011532915.1:p.Thr1044Met | |
| XM_011534614.1:c.4187C>T | XP_011532916.1:p.Thr1396Met | |
| XM_011534615.1:c.4187C>T | XP_011532917.1:p.Thr1396Met | |
| XM_011534616.1:c.3922-1254C>T | XP_011532918.1:n.3922-1254C>T | |
| XM_011534617.1:c.-74-1254C>T | XP_011532919.1:n.-74-1254C>T | |
| NM_001365684.1:c.3380C>T | NP_001352613.1:p.Thr1127Met | |
| XM_024446150.1:c.4187C>T | XP_024301918.1:p.Thr1396Met | |
| XM_024446151.1:c.4187C>T | XP_024301919.1:p.Thr1396Met | |
| XM_024446152.1:c.4187C>T | XP_024301920.1:p.Thr1396Met | |
| XM_024446153.1:c.4187C>T | XP_024301921.1:p.Thr1396Met | |
| XM_024446154.1:c.3767C>T | XP_024301922.1:p.Thr1256Met | |
| XM_024446155.1:c.3380C>T | XP_024301923.1:p.Thr1127Met | |
| XM_024446156.1:c.3380C>T | XP_024301924.1:p.Thr1127Met | |
| XM_024446158.1:c.3380C>T | XP_024301926.1:p.Thr1127Met | |
| XM_024446159.1:c.3131C>T | XP_024301927.1:p.Thr1044Met | |
| XM_024446160.1:c.4187C>T | XP_024301928.1:p.Thr1396Met | |
| XM_024446161.1:c.4187C>T | XP_024301929.1:p.Thr1396Met | |
| XM_024446162.1:c.-74-1254C>T | XP_024301930.1:n.-74-1254C>T | |
| NM_022455.5:c.4187C>T MANE Select | NP_071900.2:p.Thr1396Met | |
| NM_172349.3:c.3380C>T | NP_758859.1:p.Thr1127Met |