COSMIC:
COSM149264 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31362372 (AMR)
Genomes Max Group AF
0.28348569 (AMR)
Exomes Max Group AF
0.3221181 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24321550G>A , CM000684.2:g.24321550G>A | GRCh38 |
| NC_000022.10:g.24717518G>A , CM000684.1:g.24717518G>A | GRCh37 |
| NC_000022.9:g.23047518G>A | NCBI36 |
| NG_031915.2:g.55729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314328.14:c.570G>A (SPECC1L) MANE Select | ENSP00000325785.8:p.Thr190= | |
| ENST00000651059.1:c.627G>A (SPECC1L) | ENSP00000499052.1:p.Thr209= | |
| ENST00000314328.13:c.570G>A (SPECC1L) | ENSP00000325785.8:p.Thr190= | |
| ENST00000358654.2:c.570G>A (SPECC1L-ADORA2A) | ENSP00000351480.2:p.Thr190= | |
| ENST00000416735.5:n.481+227G>A (SPECC1L) | ||
| ENST00000421374.5:c.570G>A (SPECC1L) | ENSP00000405671.1:p.Thr190= | |
| ENST00000437398.5:c.570G>A (SPECC1L) | ENSP00000393363.1:p.Thr190= | |
| ENST00000440893.1:c.387G>A (SPECC1L) | ENSP00000414354.1:p.Thr129= | |
| ENST00000541492.1:c.570G>A (SPECC1L) | ENSP00000439633.1:p.Thr190= | |
| NM_001145468.3:c.570G>A (SPECC1L) | NP_001138940.3:p.Thr190= | |
| NM_001254732.2:c.570G>A (SPECC1L) | NP_001241661.2:p.Thr190= | |
| NM_015330.4:c.570G>A (SPECC1L) | NP_056145.4:p.Thr190= | |
| NR_103546.1:n.878G>A (SPECC1L-ADORA2A) | ||
| NM_015330.5:c.570G>A (SPECC1L) | NP_056145.4:p.Thr190= | |
| NM_001145468.4:c.570G>A (SPECC1L) | NP_001138940.4:p.Thr190= | |
| NM_001254732.3:c.570G>A (SPECC1L) | NP_001241661.3:p.Thr190= | |
| NM_015330.6:c.570G>A (SPECC1L) MANE Select | NP_056145.5:p.Thr190= |