Linked Data
ClinVar Variation Id:
198257
ClinVar RCV Id:
RCV000179530
RCV000724482
RCV001087340
RCV001132638
RCV000986867
RCV001132639
RCV004537489
dbSNP Id:
rs149925563
ExAC:
2:166797556 T / A
gnomAD v2:
2-166797556-T-A
gnomAD v3:
2-165941046-T-A
gnomAD v4:
2-165941046-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165941046T>A , CM000664.2:g.165941046T>A | GRCh38 |
| NC_000002.11:g.166797556T>A , CM000664.1:g.166797556T>A | GRCh37 |
| NC_000002.10:g.166505802T>A | NCBI36 |
| NG_030345.1:g.17793A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.691A>T (TTC21B) MANE Select | ENSP00000243344.7:p.Thr231Ser | |
| ENST00000652557.1:c.691A>T (TTC21B) | ENSP00000498617.1:p.Thr231Ser | |
| ENST00000679356.1:c.691A>T (TTC21B) | ENSP00000506245.1:p.Thr231Ser | |
| ENST00000679671.1:n.804A>T (TTC21B) | ||
| ENST00000679676.1:c.580A>T (TTC21B) | ENSP00000505492.1:p.Thr194Ser | |
| ENST00000679799.1:c.691A>T (TTC21B) | ENSP00000505208.1:p.Thr231Ser | |
| ENST00000679840.1:c.691A>T (TTC21B) | ENSP00000505248.1:p.Thr231Ser | |
| ENST00000679931.1:c.691A>T (TTC21B) | ENSP00000505632.1:p.Thr231Ser | |
| ENST00000679967.1:c.691A>T (TTC21B) | ENSP00000506607.1:p.Thr231Ser | |
| ENST00000680327.1:c.691A>T (TTC21B) | ENSP00000506639.1:p.Thr231Ser | |
| ENST00000680448.1:c.691A>T (TTC21B) | ENSP00000505921.1:p.Thr231Ser | |
| ENST00000680657.1:n.802A>T (TTC21B) | ||
| ENST00000680690.1:c.691A>T (TTC21B) | ENSP00000506121.1:p.Thr231Ser | |
| ENST00000680888.1:c.691A>T (TTC21B) | ENSP00000506276.1:p.Thr231Ser | |
| ENST00000680947.1:c.552+2173A>T (TTC21B) | ENSP00000506496.1:n.552+2173A>T | |
| ENST00000681024.1:c.691A>T (TTC21B) | ENSP00000506449.1:p.Thr231Ser | |
| ENST00000681083.1:c.*425A>T (TTC21B) | ENSP00000506095.1:n.*425A>T | |
| ENST00000681483.1:c.691A>T (TTC21B) | ENSP00000505499.1:p.Thr231Ser | |
| ENST00000681502.1:c.691A>T (TTC21B) | ENSP00000505644.1:p.Thr231Ser | |
| ENST00000681606.1:c.691A>T (TTC21B) | ENSP00000505354.1:p.Thr231Ser | |
| ENST00000681819.1:c.691A>T (TTC21B) | ENSP00000505673.1:p.Thr231Ser | |
| ENST00000681952.1:c.691A>T (TTC21B) | ENSP00000506400.1:p.Thr231Ser | |
| ENST00000243344.7:c.691A>T (TTC21B) | ENSP00000243344.7:p.Thr231Ser | |
| ENST00000464374.5:n.731A>T (TTC21B) | ||
| NM_024753.4:c.691A>T (TTC21B) | NP_079029.3:p.Thr231Ser | |
| NR_038983.1:n.277-6151T>A (TTC21B-AS1) | ||
| NR_038984.1:n.221-6151T>A (TTC21B-AS1) | ||
| XM_006712761.1:c.691A>T (TTC21B) | XP_006712824.1:p.Thr231Ser | |
| XM_011511870.1:c.124A>T (TTC21B) | XP_011510172.1:p.Thr42Ser | |
| XM_011511872.1:c.691A>T (TTC21B) | XP_011510174.1:p.Thr231Ser | |
| XM_011511872.2:c.691A>T (TTC21B) | XP_011510174.1:p.Thr231Ser | |
| XM_017004967.1:c.691A>T (TTC21B) | XP_016860456.1:p.Thr231Ser | |
| XM_017004969.1:c.-326A>T (TTC21B) | XP_016860458.1:n.-326A>T | |
| NM_024753.5:c.691A>T (TTC21B) MANE Select | NP_079029.3:p.Thr231Ser |