Linked Data
ClinVar Variation Id:
1755095
ClinVar RCV Id:
RCV002367246
dbSNP Id:
rs1211126254
gnomAD v2:
5-176721091-C-T
gnomAD v3:
5-177294090-C-T
gnomAD v4:
5-177294090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177294090C>T , CM000667.2:g.177294090C>T | GRCh38 |
| NC_000005.9:g.176721091C>T , CM000667.1:g.176721091C>T | GRCh37 |
| NC_000005.8:g.176653697C>T | NCBI36 |
| NG_009821.1:g.166012C>T , LRG_512:g.166012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.5849C>T | ENSP00000423372.3:p.Thr1950Ile | |
| ENST00000347982.9:c.5849C>T | ENSP00000343209.5:p.Thr1950Ile | |
| ENST00000354179.9:c.5849C>T | ENSP00000346111.5:p.Thr1950Ile | |
| ENST00000503056.6:c.1364C>T | ENSP00000424024.2:p.Thr455Ile | |
| ENST00000508029.6:c.1364C>T | ENSP00000425120.2:p.Thr455Ile | |
| ENST00000685206.1:n.6305C>T | ||
| ENST00000686385.1:n.1138C>T | ||
| ENST00000686993.1:c.5849C>T | ENSP00000510020.1:p.Thr1950Ile | |
| ENST00000687453.1:c.6413C>T | ENSP00000508426.1:p.Thr2138Ile | |
| ENST00000688613.1:n.6119C>T | ||
| ENST00000689345.1:c.5849C>T | ENSP00000509711.1:p.Thr1950Ile | |
| ENST00000439151.7:c.6722C>T MANE Select | ENSP00000395929.2:p.Thr2241Ile | |
| ENST00000347982.8:c.5915C>T | ENSP00000343209.4:p.Thr1972Ile | |
| ENST00000354179.8:c.5915C>T | ENSP00000346111.4:p.Thr1972Ile | |
| ENST00000439151.6:c.6722C>T | ENSP00000395929.2:p.Thr2241Ile | |
| NM_022455.4:c.6722C>T , LRG_512t1:c.6722C>T | NP_071900.2:p.Thr2241Ile | |
| NM_172349.2:c.5915C>T | NP_758859.1:p.Thr1972Ile | |
| XM_005265959.1:c.6722C>T | XP_005266016.1:p.Thr2241Ile | |
| XM_005265960.1:c.5915C>T | XP_005266017.1:p.Thr1972Ile | |
| XM_005265961.1:c.5915C>T | XP_005266018.1:p.Thr1972Ile | |
| XM_005265962.3:c.2216C>T | XP_005266019.1:p.Thr739Ile | |
| XM_011534610.1:c.6722C>T | XP_011532912.1:p.Thr2241Ile | |
| XM_011534611.1:c.6722C>T | XP_011532913.1:p.Thr2241Ile | |
| XM_011534612.1:c.6302C>T | XP_011532914.1:p.Thr2101Ile | |
| XM_011534613.1:c.5666C>T | XP_011532915.1:p.Thr1889Ile | |
| XM_011534617.1:c.2456C>T | XP_011532919.1:p.Thr819Ile | |
| NM_001365684.1:c.5915C>T | NP_001352613.1:p.Thr1972Ile | |
| XM_024446150.1:c.6722C>T | XP_024301918.1:p.Thr2241Ile | |
| XM_024446151.1:c.6722C>T | XP_024301919.1:p.Thr2241Ile | |
| XM_024446152.1:c.6722C>T | XP_024301920.1:p.Thr2241Ile | |
| XM_024446153.1:c.6722C>T | XP_024301921.1:p.Thr2241Ile | |
| XM_024446154.1:c.6302C>T | XP_024301922.1:p.Thr2101Ile | |
| XM_024446155.1:c.5915C>T | XP_024301923.1:p.Thr1972Ile | |
| XM_024446156.1:c.5915C>T | XP_024301924.1:p.Thr1972Ile | |
| XM_024446158.1:c.5915C>T | XP_024301926.1:p.Thr1972Ile | |
| XM_024446159.1:c.5666C>T | XP_024301927.1:p.Thr1889Ile | |
| XM_024446162.1:c.2456C>T | XP_024301930.1:p.Thr819Ile | |
| XM_024446163.1:c.2216C>T | XP_024301931.1:p.Thr739Ile | |
| NM_022455.5:c.6722C>T MANE Select | NP_071900.2:p.Thr2241Ile | |
| NM_172349.3:c.5915C>T | NP_758859.1:p.Thr1972Ile |