Linked Data
ClinVar Variation Id:
771409
ClinVar RCV Id:
RCV000950721
dbSNP Id:
rs144312007
ExAC:
6:168348981 G / A
gnomAD v2:
6-168348981-G-A
gnomAD v3:
6-167948301-G-A
gnomAD v4:
6-167948301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167948301G>A , CM000668.2:g.167948301G>A | GRCh38 |
| NC_000006.11:g.168348981G>A , CM000668.1:g.168348981G>A | GRCh37 |
| NC_000006.10:g.168091830G>A | NCBI36 |
| NG_029689.1:g.126311G>A | |
| NG_029689.2:g.126311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515794.3:c.3606G>A | ENSP00000422166.3:p.Thr1202= | |
| ENST00000351017.9:c.3609G>A | ENSP00000252692.6:p.Thr1203= | |
| ENST00000485634.7:c.648G>A | ENSP00000423035.2:p.Thr216= | |
| ENST00000683244.1:c.3654G>A MANE Select | ENSP00000507324.1:p.Thr1218= | |
| ENST00000344191.8:c.3633G>A | ENSP00000341118.4:p.Thr1211= | |
| ENST00000351017.8:c.3654G>A | ENSP00000252692.5:p.Thr1218= | |
| ENST00000366806.6:c.3510G>A | ENSP00000355771.3:p.Thr1170= | |
| ENST00000366809.6:n.3585G>A | ||
| ENST00000392108.7:c.3633G>A | ENSP00000375956.3:p.Thr1211= | |
| ENST00000392112.5:c.3582G>A | ENSP00000375960.2:p.Thr1194= | |
| ENST00000400822.7:c.3630G>A | ENSP00000383623.3:p.Thr1210= | |
| ENST00000447894.6:c.3633G>A | ENSP00000404595.2:p.Thr1211= | |
| ENST00000509296.1:n.273G>A | ||
| ENST00000511637.5:n.2223G>A | ||
| NM_001040000.2:c.3633G>A | NP_001035089.1:p.Thr1211= | |
| NM_001207008.1:c.3582G>A | NP_001193937.1:p.Thr1194= | |
| NM_001291964.1:c.3510G>A | NP_001278893.1:p.Thr1170= | |
| XM_005266996.2:c.3633G>A | XP_005267053.1:p.Thr1211= | |
| XM_005266997.1:c.3636G>A | XP_005267054.1:p.Thr1212= | |
| XM_006715491.1:c.3657G>A | XP_006715554.1:p.Thr1219= | |
| XM_006715492.1:c.3657G>A | XP_006715555.1:p.Thr1219= | |
| XM_006715494.2:c.3585G>A | XP_006715557.1:p.Thr1195= | |
| XM_011535840.1:c.3654G>A | XP_011534142.1:p.Thr1218= | |
| XM_011535841.1:c.3651G>A | XP_011534143.1:p.Thr1217= | |
| XM_011535842.1:c.3633G>A | XP_011534144.1:p.Thr1211= | |
| XM_011535843.1:c.3612G>A | XP_011534145.1:p.Thr1204= | |
| NM_001366319.1:c.3633G>A | NP_001353248.1:p.Thr1211= | |
| NM_001366320.1:c.3633G>A | NP_001353249.1:p.Thr1211= | |
| NM_001366321.1:c.3612G>A | NP_001353250.1:p.Thr1204= | |
| XM_005266997.2:c.3636G>A | XP_005267054.1:p.Thr1212= | |
| XM_006715491.2:c.3657G>A | XP_006715554.1:p.Thr1219= | |
| XM_006715494.3:c.3585G>A | XP_006715557.1:p.Thr1195= | |
| XM_017010878.1:c.3657G>A | XP_016866367.1:p.Thr1219= | |
| XM_017010879.1:c.3654G>A | XP_016866368.1:p.Thr1218= | |
| XM_017010880.1:c.3654G>A | XP_016866369.1:p.Thr1218= | |
| XM_017010881.1:c.3651G>A | XP_016866370.1:p.Thr1217= | |
| XM_017010882.1:c.3636G>A | XP_016866371.1:p.Thr1212= | |
| XM_017010884.1:c.3609G>A | XP_016866373.1:p.Thr1203= | |
| XM_017010885.1:c.3585G>A | XP_016866374.1:p.Thr1195= | |
| XM_017010886.1:c.3657G>A | XP_016866375.1:p.Thr1219= | |
| XM_017010887.1:c.3132G>A | XP_016866376.1:p.Thr1044= | |
| XR_001743427.1:n.3821G>A | ||
| NM_001040000.3:c.3633G>A | NP_001035089.1:p.Thr1211= | |
| NM_001366321.2:c.3612G>A | NP_001353250.1:p.Thr1204= | |
| NM_001207008.2:c.3582G>A | NP_001193937.1:p.Thr1194= | |
| NM_001291964.2:c.3510G>A | NP_001278893.1:p.Thr1170= | |
| NM_001366319.2:c.3633G>A | NP_001353248.1:p.Thr1211= | |
| NM_001366320.2:c.3633G>A | NP_001353249.1:p.Thr1211= | |
| NM_001386888.1:c.3654G>A MANE Select | NP_001373817.1:p.Thr1218= |