Linked Data
dbSNP Id:
rs746722377
ExAC:
12:102155541 C / CGT
gnomAD v2:
12-102155541-C-CGT
gnomAD v4:
12-101761763-C-CGT
MyVariant Identifiers:
chr12:g.102155541_102155542insGT (hg19)
chr12:g.101761763_101761764insGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761763_101761764insGT , CM000674.2:g.101761763_101761764insGT | GRCh38 |
| NC_000012.11:g.102155541_102155542insGT , CM000674.1:g.102155541_102155542insGT | GRCh37 |
| NC_000012.10:g.100679672_100679673insGT | NCBI36 |
| NG_021243.1:g.74104_74105insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2716-1_2716insAC MANE Select | ENSP00000299314.7:n.2716-1_2716insAC | |
| ENST00000299314.11:c.2716-1_2716insAC | ENSP00000299314.7:n.2716-1_2716insAC | |
| NM_024312.4:c.2716-1_2716insAC | NP_077288.2:n.2716-1_2716insAC | |
| XM_006719593.2:c.2716-1_2716insAC | XP_006719656.1:n.2716-1_2716insAC | |
| XM_011538731.1:c.2635-1_2635insAC | XP_011537033.1:n.2635-1_2635insAC | |
| XM_006719593.3:c.2716-1_2716insAC | XP_006719656.1:n.2716-1_2716insAC | |
| XM_011538731.2:c.2635-1_2635insAC | XP_011537033.1:n.2635-1_2635insAC | |
| XM_017019961.1:c.2500-1_2500insAC | XP_016875450.1:n.2500-1_2500insAC | |
| XM_017019962.2:c.1489-1_1489insAC | XP_016875451.1:n.1489-1_1489insAC | |
| NM_024312.5:c.2716-1_2716insAC MANE Select | NP_077288.2:n.2716-1_2716insAC |