Linked Data
ClinVar Variation Id:
30935
ClinVar RCV Id:
RCV000023924
RCV000681870
RCV000685092
RCV000763456
RCV000786982
RCV000857219
RCV001003236
RCV001074967
RCV001328175
RCV002251925
RCV003415736
dbSNP Id:
rs140511594
ExAC:
2:166797621 G / A
gnomAD v2:
2-166797621-G-A
gnomAD v3:
2-165941111-G-A
gnomAD v4:
2-165941111-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165941111G>A , CM000664.2:g.165941111G>A | GRCh38 |
| NC_000002.11:g.166797621G>A , CM000664.1:g.166797621G>A | GRCh37 |
| NC_000002.10:g.166505867G>A | NCBI36 |
| NG_030345.1:g.17728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243344.8:c.626C>T (TTC21B) MANE Select | ENSP00000243344.7:p.Pro209Leu | |
| ENST00000652557.1:c.626C>T (TTC21B) | ENSP00000498617.1:p.Pro209Leu | |
| ENST00000679356.1:c.626C>T (TTC21B) | ENSP00000506245.1:p.Pro209Leu | |
| ENST00000679671.1:n.739C>T (TTC21B) | ||
| ENST00000679676.1:c.515C>T (TTC21B) | ENSP00000505492.1:p.Pro172Leu | |
| ENST00000679799.1:c.626C>T (TTC21B) | ENSP00000505208.1:p.Pro209Leu | |
| ENST00000679840.1:c.626C>T (TTC21B) | ENSP00000505248.1:p.Pro209Leu | |
| ENST00000679931.1:c.626C>T (TTC21B) | ENSP00000505632.1:p.Pro209Leu | |
| ENST00000679967.1:c.626C>T (TTC21B) | ENSP00000506607.1:p.Pro209Leu | |
| ENST00000680327.1:c.626C>T (TTC21B) | ENSP00000506639.1:p.Pro209Leu | |
| ENST00000680448.1:c.626C>T (TTC21B) | ENSP00000505921.1:p.Pro209Leu | |
| ENST00000680657.1:n.737C>T (TTC21B) | ||
| ENST00000680690.1:c.626C>T (TTC21B) | ENSP00000506121.1:p.Pro209Leu | |
| ENST00000680888.1:c.626C>T (TTC21B) | ENSP00000506276.1:p.Pro209Leu | |
| ENST00000680947.1:c.552+2108C>T (TTC21B) | ENSP00000506496.1:n.552+2108C>T | |
| ENST00000681024.1:c.626C>T (TTC21B) | ENSP00000506449.1:p.Pro209Leu | |
| ENST00000681083.1:c.*360C>T (TTC21B) | ENSP00000506095.1:n.*360C>T | |
| ENST00000681483.1:c.626C>T (TTC21B) | ENSP00000505499.1:p.Pro209Leu | |
| ENST00000681502.1:c.626C>T (TTC21B) | ENSP00000505644.1:p.Pro209Leu | |
| ENST00000681606.1:c.626C>T (TTC21B) | ENSP00000505354.1:p.Pro209Leu | |
| ENST00000681819.1:c.626C>T (TTC21B) | ENSP00000505673.1:p.Pro209Leu | |
| ENST00000681952.1:c.626C>T (TTC21B) | ENSP00000506400.1:p.Pro209Leu | |
| ENST00000243344.7:c.626C>T (TTC21B) | ENSP00000243344.7:p.Pro209Leu | |
| ENST00000464374.5:n.666C>T (TTC21B) | ||
| NM_024753.4:c.626C>T (TTC21B) | NP_079029.3:p.Pro209Leu | |
| NR_038983.1:n.277-6086G>A (TTC21B-AS1) | ||
| NR_038984.1:n.221-6086G>A (TTC21B-AS1) | ||
| XM_006712761.1:c.626C>T (TTC21B) | XP_006712824.1:p.Pro209Leu | |
| XM_011511870.1:c.59C>T (TTC21B) | XP_011510172.1:p.Pro20Leu | |
| XM_011511872.1:c.626C>T (TTC21B) | XP_011510174.1:p.Pro209Leu | |
| XM_011511872.2:c.626C>T (TTC21B) | XP_011510174.1:p.Pro209Leu | |
| XM_017004967.1:c.626C>T (TTC21B) | XP_016860456.1:p.Pro209Leu | |
| XM_017004969.1:c.-391C>T (TTC21B) | XP_016860458.1:n.-391C>T | |
| NM_024753.5:c.626C>T (TTC21B) MANE Select | NP_079029.3:p.Pro209Leu |