Linked Data
dbSNP Id:
rs1953001864
gnomAD v4:
12-101761798-T-C
MyVariant Identifiers:
chr12:g.102155576T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761798T>C , CM000674.2:g.101761798T>C | GRCh38 |
| NC_000012.11:g.102155576T>C , CM000674.1:g.102155576T>C | GRCh37 |
| NC_000012.10:g.100679707T>C | NCBI36 |
| NG_021243.1:g.74070A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2716-35A>G MANE Select | ENSP00000299314.7:n.2716-35A>G | |
| ENST00000299314.11:c.2716-35A>G | ENSP00000299314.7:n.2716-35A>G | |
| NM_024312.4:c.2716-35A>G | NP_077288.2:n.2716-35A>G | |
| XM_006719593.2:c.2716-35A>G | XP_006719656.1:n.2716-35A>G | |
| XM_011538731.1:c.2635-35A>G | XP_011537033.1:n.2635-35A>G | |
| XM_006719593.3:c.2716-35A>G | XP_006719656.1:n.2716-35A>G | |
| XM_011538731.2:c.2635-35A>G | XP_011537033.1:n.2635-35A>G | |
| XM_017019961.1:c.2500-35A>G | XP_016875450.1:n.2500-35A>G | |
| XM_017019962.2:c.1489-35A>G | XP_016875451.1:n.1489-35A>G | |
| NM_024312.5:c.2716-35A>G MANE Select | NP_077288.2:n.2716-35A>G |