Linked Data
dbSNP Id:
rs142082953
gnomAD v2:
11-89018271-A-C
gnomAD v3:
11-89285103-A-C
gnomAD v4:
11-89285103-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89285103A>C , CM000673.2:g.89285103A>C | GRCh38 |
| NC_000011.9:g.89018271A>C , CM000673.1:g.89018271A>C | GRCh37 |
| NC_000011.8:g.88657919A>C | NCBI36 |
| NG_008748.1:g.112232A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1366+149A>C MANE Select | ENSP00000263321.4:n.1366+149A>C | |
| ENST00000263321.5:c.1366+149A>C | ENSP00000263321.4:n.1366+149A>C | |
| ENST00000528243.1:n.364+149A>C | ||
| NM_000372.4:c.1366+149A>C | NP_000363.1:n.1366+149A>C | |
| XM_011542970.1:c.1366+149A>C | XP_011541272.1:n.1366+149A>C | |
| XM_011542970.2:c.1366+149A>C | XP_011541272.1:n.1366+149A>C | |
| XR_001748321.1:n.2456+931T>G | ||
| XR_001748322.1:n.2457+931T>G | ||
| NM_000372.5:c.1366+149A>C MANE Select | NP_000363.1:n.1366+149A>C |