Linked Data
dbSNP Id:
rs372936145
ExAC:
2:202587812 G / A
gnomAD v2:
2-202587812-G-A
gnomAD v4:
2-201723089-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201723089G>A , CM000664.2:g.201723089G>A | GRCh38 |
| NC_000002.11:g.202587812G>A , CM000664.1:g.202587812G>A | GRCh37 |
| NC_000002.10:g.202296057G>A | NCBI36 |
| NG_008775.1:g.63084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.3656C>T MANE Select | ENSP00000264276.6:p.Thr1219Ile | |
| ENST00000439495.6:c.1334C>T | ENSP00000403832.2:p.Thr445Ile | |
| ENST00000482891.6:n.4424C>T | ||
| ENST00000494017.6:n.1388C>T | ||
| ENST00000679409.1:c.1334C>T | ENSP00000506531.1:p.Thr445Ile | |
| ENST00000679416.1:n.5160C>T | ||
| ENST00000679435.1:c.3656C>T | ENSP00000505218.1:p.Thr1219Ile | |
| ENST00000679516.1:c.3656C>T | ENSP00000505187.1:p.Thr1219Ile | |
| ENST00000679618.1:c.*744C>T | ENSP00000506274.1:n.*744C>T | |
| ENST00000679630.1:n.5505C>T | ||
| ENST00000679686.1:n.3770C>T | ||
| ENST00000679701.1:n.6648C>T | ||
| ENST00000679916.1:c.3656C>T | ENSP00000506172.1:p.Thr1219Ile | |
| ENST00000680000.1:c.3656C>T | ENSP00000506173.1:p.Thr1219Ile | |
| ENST00000680135.1:c.*1620C>T | ENSP00000506211.1:n.*1620C>T | |
| ENST00000680149.1:c.3656C>T | ENSP00000506497.1:p.Thr1219Ile | |
| ENST00000680163.1:c.3656C>T | ENSP00000505092.1:p.Thr1219Ile | |
| ENST00000680174.1:n.4347C>T | ||
| ENST00000680236.1:c.*717C>T | ENSP00000506212.1:n.*717C>T | |
| ENST00000680497.1:c.3758C>T | ENSP00000505954.1:p.Thr1253Ile | |
| ENST00000680508.1:c.3656C>T | ENSP00000505749.1:p.Thr1219Ile | |
| ENST00000680569.1:c.*1367C>T | ENSP00000505522.1:n.*1367C>T | |
| ENST00000680630.1:n.4088C>T | ||
| ENST00000680634.1:n.21-2600C>T | ||
| ENST00000680722.1:n.1456C>T | ||
| ENST00000680723.1:n.4439C>T | ||
| ENST00000680726.1:c.3656C>T | ENSP00000505505.1:p.Thr1219Ile | |
| ENST00000680737.1:n.3927C>T | ||
| ENST00000680759.1:c.3656C>T | ENSP00000505848.1:p.Thr1219Ile | |
| ENST00000680814.1:c.3656C>T | ENSP00000505710.1:p.Thr1219Ile | |
| ENST00000680828.1:c.*1228C>T | ENSP00000505249.1:n.*1228C>T | |
| ENST00000680861.1:c.3656C>T | ENSP00000505043.1:p.Thr1219Ile | |
| ENST00000680927.1:c.3656C>T | ENSP00000505473.1:p.Thr1219Ile | |
| ENST00000680939.1:n.3998C>T | ||
| ENST00000681152.1:c.3656C>T | ENSP00000505388.1:p.Thr1219Ile | |
| ENST00000681250.1:c.*373C>T | ENSP00000505684.1:n.*373C>T | |
| ENST00000681256.1:c.*1674C>T | ENSP00000505446.1:n.*1674C>T | |
| ENST00000681279.1:n.4424C>T | ||
| ENST00000681303.1:c.3656C>T | ENSP00000505576.1:p.Thr1219Ile | |
| ENST00000681307.1:n.4769C>T | ||
| ENST00000681461.1:n.4424C>T | ||
| ENST00000681495.1:c.1196C>T | ENSP00000506085.1:p.Thr399Ile | |
| ENST00000681558.1:c.1334C>T | ENSP00000505568.1:p.Thr445Ile | |
| ENST00000681619.1:c.3656C>T | ENSP00000505071.1:p.Thr1219Ile | |
| ENST00000681716.1:c.*1367C>T | ENSP00000505078.1:n.*1367C>T | |
| ENST00000681758.1:n.3998C>T | ||
| ENST00000681768.1:c.*1320C>T | ENSP00000506311.1:n.*1320C>T | |
| ENST00000681808.1:c.3656C>T | ENSP00000505219.1:p.Thr1219Ile | |
| ENST00000264276.10:c.3656C>T | ENSP00000264276.6:p.Thr1219Ile | |
| ENST00000439495.5:c.1617C>T | ||
| ENST00000482891.5:n.3796C>T | ||
| ENST00000489440.5:n.477C>T | ||
| NM_020919.3:c.3656C>T | NP_065970.2:p.Thr1219Ile | |
| XM_005246709.2:c.3656C>T | XP_005246766.1:p.Thr1219Ile | |
| XM_006712654.1:c.3656C>T | XP_006712717.1:p.Thr1219Ile | |
| XM_006712655.2:c.1592C>T | XP_006712718.1:p.Thr531Ile | |
| XM_011511530.1:c.3317C>T | XP_011509832.1:p.Thr1106Ile | |
| XM_011511531.1:c.3656C>T | XP_011509833.1:p.Thr1219Ile | |
| XR_922974.1:n.3791C>T | ||
| XM_006712654.3:c.3656C>T | XP_006712717.1:p.Thr1219Ile | |
| XM_006712655.3:c.1592C>T | XP_006712718.1:p.Thr531Ile | |
| XM_017004569.2:c.3656C>T | XP_016860058.1:p.Thr1219Ile | |
| XM_017004570.2:c.3656C>T | XP_016860059.1:p.Thr1219Ile | |
| XM_017004572.2:c.1274C>T | XP_016860061.1:p.Thr425Ile | |
| XM_024453024.1:c.3317C>T | XP_024308792.1:p.Thr1106Ile | |
| XM_024453025.1:c.1592C>T | XP_024308793.1:p.Thr531Ile | |
| XR_001738864.2:n.3791C>T | ||
| XR_001738865.2:n.3791C>T | ||
| XR_001738866.2:n.3791C>T | ||
| XR_001738867.2:n.3791C>T | ||
| XR_002959320.1:n.2847C>T | ||
| NM_020919.4:c.3656C>T MANE Select | NP_065970.2:p.Thr1219Ile |