Linked Data
ClinVar Variation Id:
2084
ClinVar RCV Id:
RCV000002165
dbSNP Id:
rs121434368
gnomAD v4:
19-12899471-C-T
PubMed:
PMID:8900228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12899471C>T , CM000681.2:g.12899471C>T | GRCh38 |
| NC_000019.9:g.13010285C>T , CM000681.1:g.13010285C>T | GRCh37 |
| NC_000019.8:g.12871285C>T | NCBI36 |
| NG_009292.1:g.13312C>T | |
| NG_033049.1:g.24802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1247C>T (GCDH) MANE Select | ENSP00000222214.4:p.Thr416Ile | |
| ENST00000293695.8:c.613-86G>A (SYCE2) MANE Select | ENSP00000293695.6:n.613-86G>A | |
| ENST00000222214.9:c.1247C>T (GCDH) | ENSP00000222214.4:p.Thr416Ile | |
| ENST00000293695.7:c.613-86G>A (SYCE2) | ENSP00000293695.6:n.613-86G>A | |
| ENST00000585420.5:n.1577C>T (GCDH) | ||
| ENST00000590530.5:c.*687C>T (GCDH) | ENSP00000468452.1:n.*687C>T | |
| ENST00000591043.1:n.1557C>T (GCDH) | ||
| ENST00000591050.1:c.210+1608C>T (GCDH) | ||
| ENST00000591470.5:c.1247C>T (GCDH) | ENSP00000466845.1:p.Thr416Ile | |
| ENST00000592819.1:c.186-86G>A (SYCE2) | ||
| NM_000159.3:c.1247C>T (GCDH) | NP_000150.1:p.Thr416Ile | |
| NM_001105578.1:c.613-86G>A (SYCE2) | NP_001099048.1:n.613-86G>A | |
| NM_013976.3:c.1244-229C>T (GCDH) | NP_039663.1:n.1244-229C>T | |
| NR_102316.1:n.1410C>T (GCDH) | ||
| NR_102317.1:n.1628C>T (GCDH) | ||
| XM_005259848.3:c.*23-86G>A (SYCE2) | XP_005259905.1:n.*23-86G>A | |
| XM_006722721.2:c.1244-763C>T (GCDH) | XP_006722784.1:n.1244-763C>T | |
| XM_011527882.1:c.610-86G>A (SYCE2) | XP_011526184.1:n.610-86G>A | |
| XM_011527883.1:c.*23-86G>A (SYCE2) | XP_011526185.1:n.*23-86G>A | |
| XM_011527899.1:c.1243+1608C>T (GCDH) | XP_011526201.1:n.1243+1608C>T | |
| XM_011527900.1:c.1244-763C>T (GCDH) | XP_011526202.1:n.1244-763C>T | |
| XM_005259848.4:c.*23-86G>A (SYCE2) | XP_005259905.1:n.*23-86G>A | |
| XM_011527882.2:c.610-86G>A (SYCE2) | XP_011526184.1:n.610-86G>A | |
| XM_011527883.2:c.*23-86G>A (SYCE2) | XP_011526185.1:n.*23-86G>A | |
| XM_011527899.2:c.1243+1608C>T (GCDH) | XP_011526201.1:n.1243+1608C>T | |
| XM_011527900.2:c.1244-763C>T (GCDH) | XP_011526202.1:n.1244-763C>T | |
| XM_017026580.1:c.1244-763C>T (GCDH) | XP_016882069.1:n.1244-763C>T | |
| NM_000159.4:c.1247C>T (GCDH) MANE Select | NP_000150.1:p.Thr416Ile | |
| NM_001105578.2:c.613-86G>A (SYCE2) MANE Select | NP_001099048.1:n.613-86G>A | |
| NM_013976.4:c.1244-229C>T (GCDH) | NP_039663.1:n.1244-229C>T | |
| NM_013976.5:c.1244-229C>T (GCDH) | NP_039663.1:n.1244-229C>T |