Linked Data
ClinVar Variation Id:
130658
ClinVar RCV Id:
RCV000118730
RCV000296525
RCV001573936
RCV001086745
RCV000386132
RCV002277182
RCV002490817
dbSNP Id:
rs80026831
ExAC:
2:166797582 T / A
gnomAD v2:
2-166797582-T-A
gnomAD v3:
2-165941072-T-A
gnomAD v4:
2-165941072-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165941072T>A , CM000664.2:g.165941072T>A | GRCh38 |
| NC_000002.11:g.166797582T>A , CM000664.1:g.166797582T>A | GRCh37 |
| NC_000002.10:g.166505828T>A | NCBI36 |
| NG_030345.1:g.17767A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.665A>T (TTC21B) MANE Select | ENSP00000243344.7:p.Gln222Leu | |
| ENST00000652557.1:c.665A>T (TTC21B) | ENSP00000498617.1:p.Gln222Leu | |
| ENST00000679356.1:c.665A>T (TTC21B) | ENSP00000506245.1:p.Gln222Leu | |
| ENST00000679671.1:n.778A>T (TTC21B) | ||
| ENST00000679676.1:c.554A>T (TTC21B) | ENSP00000505492.1:p.Gln185Leu | |
| ENST00000679799.1:c.665A>T (TTC21B) | ENSP00000505208.1:p.Gln222Leu | |
| ENST00000679840.1:c.665A>T (TTC21B) | ENSP00000505248.1:p.Gln222Leu | |
| ENST00000679931.1:c.665A>T (TTC21B) | ENSP00000505632.1:p.Gln222Leu | |
| ENST00000679967.1:c.665A>T (TTC21B) | ENSP00000506607.1:p.Gln222Leu | |
| ENST00000680327.1:c.665A>T (TTC21B) | ENSP00000506639.1:p.Gln222Leu | |
| ENST00000680448.1:c.665A>T (TTC21B) | ENSP00000505921.1:p.Gln222Leu | |
| ENST00000680657.1:n.776A>T (TTC21B) | ||
| ENST00000680690.1:c.665A>T (TTC21B) | ENSP00000506121.1:p.Gln222Leu | |
| ENST00000680888.1:c.665A>T (TTC21B) | ENSP00000506276.1:p.Gln222Leu | |
| ENST00000680947.1:c.552+2147A>T (TTC21B) | ENSP00000506496.1:n.552+2147A>T | |
| ENST00000681024.1:c.665A>T (TTC21B) | ENSP00000506449.1:p.Gln222Leu | |
| ENST00000681083.1:c.*399A>T (TTC21B) | ENSP00000506095.1:n.*399A>T | |
| ENST00000681483.1:c.665A>T (TTC21B) | ENSP00000505499.1:p.Gln222Leu | |
| ENST00000681502.1:c.665A>T (TTC21B) | ENSP00000505644.1:p.Gln222Leu | |
| ENST00000681606.1:c.665A>T (TTC21B) | ENSP00000505354.1:p.Gln222Leu | |
| ENST00000681819.1:c.665A>T (TTC21B) | ENSP00000505673.1:p.Gln222Leu | |
| ENST00000681952.1:c.665A>T (TTC21B) | ENSP00000506400.1:p.Gln222Leu | |
| ENST00000243344.7:c.665A>T (TTC21B) | ENSP00000243344.7:p.Gln222Leu | |
| ENST00000464374.5:n.705A>T (TTC21B) | ||
| NM_024753.4:c.665A>T (TTC21B) | NP_079029.3:p.Gln222Leu | |
| NR_038983.1:n.277-6125T>A (TTC21B-AS1) | ||
| NR_038984.1:n.221-6125T>A (TTC21B-AS1) | ||
| XM_006712761.1:c.665A>T (TTC21B) | XP_006712824.1:p.Gln222Leu | |
| XM_011511870.1:c.98A>T (TTC21B) | XP_011510172.1:p.Gln33Leu | |
| XM_011511872.1:c.665A>T (TTC21B) | XP_011510174.1:p.Gln222Leu | |
| XM_011511872.2:c.665A>T (TTC21B) | XP_011510174.1:p.Gln222Leu | |
| XM_017004967.1:c.665A>T (TTC21B) | XP_016860456.1:p.Gln222Leu | |
| XM_017004969.1:c.-352A>T (TTC21B) | XP_016860458.1:n.-352A>T | |
| NM_024753.5:c.665A>T (TTC21B) MANE Select | NP_079029.3:p.Gln222Leu |