Linked Data
ClinVar Variation Id:
92877
dbSNP Id:
rs138558359
ExAC:
X:10417424 G / A
gnomAD v2:
X-10417424-G-A
gnomAD v3:
X-10449384-G-A
gnomAD v4:
X-10449384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.10449384G>A , CM000685.2:g.10449384G>A | GRCh38 |
| NC_000023.10:g.10417424G>A , CM000685.1:g.10417424G>A | GRCh37 |
| NC_000023.9:g.10377424G>A | NCBI36 |
| NG_008197.1:g.389307C>T | |
| NG_008197.2:g.389307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413894.6:c.1988C>T | ENSP00000391154.2:p.Thr663Ile | |
| ENST00000689773.1:c.1874C>T | ENSP00000509925.1:p.Thr625Ile | |
| ENST00000690004.1:c.1874C>T | ENSP00000509730.1:p.Thr625Ile | |
| ENST00000691943.1:c.1880C>T | ENSP00000508663.1:p.Thr627Ile | |
| ENST00000317552.9:c.1988C>T MANE Select | ENSP00000312678.4:p.Thr663Ile | |
| ENST00000675073.1:c.2141C>T | ENSP00000501707.1:p.Thr714Ile | |
| ENST00000317552.8:c.1988C>T | ENSP00000312678.4:p.Thr663Ile | |
| ENST00000380779.5:c.1988C>T | ENSP00000370156.1:p.Thr663Ile | |
| ENST00000380780.5:c.1988C>T | ENSP00000370157.1:p.Thr663Ile | |
| ENST00000380782.6:c.*229C>T | ENSP00000370159.1:n.*229C>T | |
| ENST00000380785.5:c.1988C>T | ENSP00000370162.1:p.Thr663Ile | |
| ENST00000380787.5:c.1988C>T | ENSP00000370164.1:p.Thr663Ile | |
| ENST00000453318.6:c.1988C>T | ENSP00000414521.2:p.Thr663Ile | |
| NM_000381.3:c.1988C>T | NP_000372.1:p.Thr663Ile | |
| NM_001098624.2:c.1988C>T | NP_001092094.1:p.Thr663Ile | |
| NM_001193277.1:c.1988C>T | NP_001180206.1:p.Thr663Ile | |
| NM_033289.1:c.1874C>T | NP_150631.1:p.Thr625Ile | |
| NM_033290.3:c.1988C>T | NP_150632.1:p.Thr663Ile | |
| XM_005274536.1:c.2141C>T | XP_005274593.1:p.Thr714Ile | |
| XM_005274537.1:c.2141C>T | XP_005274594.1:p.Thr714Ile | |
| XM_006724492.2:c.2141C>T | XP_006724555.1:p.Thr714Ile | |
| XM_006724493.2:c.2027C>T | XP_006724556.1:p.Thr676Ile | |
| XM_011545525.1:c.2141C>T | XP_011543827.1:p.Thr714Ile | |
| XM_011545526.1:c.2141C>T | XP_011543828.1:p.Thr714Ile | |
| XM_011545527.1:c.2141C>T | XP_011543829.1:p.Thr714Ile | |
| NM_001347733.1:c.1988C>T | NP_001334662.1:p.Thr663Ile | |
| NM_000381.4:c.1988C>T MANE Select | NP_000372.1:p.Thr663Ile | |
| NM_001347733.2:c.1988C>T | NP_001334662.1:p.Thr663Ile | |
| NM_033289.2:c.1874C>T | NP_150631.1:p.Thr625Ile | |
| NM_033290.4:c.1988C>T | NP_150632.1:p.Thr663Ile |