Linked Data
dbSNP Id:
rs1301858942
gnomAD v3:
12-117916136-T-TTC
gnomAD v4:
12-117916136-T-TTC
MyVariant Identifiers:
chr12:g.118353941_118353942insTC (hg19)
chr12:g.117916136_117916137insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117916137_117916138insCT , CM000674.2:g.117916137_117916138insCT | GRCh38 |
| NC_000012.11:g.118353942_118353943insCT , CM000674.1:g.118353942_118353943insCT | GRCh37 |
| NC_000012.10:g.116838325_116838326insCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339824.7:c.180+51939_180+51940insGA MANE Select | ENSP00000339952.4:n.180+51939_180+51940insGA | |
| ENST00000339824.6:c.180+51939_180+51940insGA | ENSP00000339952.4:n.180+51939_180+51940insGA | |
| ENST00000425217.5:c.93+51939_93+51940insGA | ENSP00000389715.1:n.93+51939_93+51940insGA | |
| NM_173598.4:c.93+51939_93+51940insGA | NP_775869.3:n.93+51939_93+51940insGA | |
| XM_011538224.1:c.180+51939_180+51940insGA | XP_011536526.1:n.180+51939_180+51940insGA | |
| XM_011538226.1:c.180+51939_180+51940insGA | XP_011536528.1:n.180+51939_180+51940insGA | |
| XM_011538229.1:c.180+51939_180+51940insGA | XP_011536531.1:n.180+51939_180+51940insGA | |
| XR_944522.1:n.1014+51939_1014+51940insGA | ||
| XM_011538224.3:c.180+51939_180+51940insGA | XP_011536526.1:n.180+51939_180+51940insGA | |
| XM_011538226.3:c.180+51939_180+51940insGA | XP_011536528.1:n.180+51939_180+51940insGA | |
| XM_011538229.3:c.180+51939_180+51940insGA | XP_011536531.1:n.180+51939_180+51940insGA | |
| XM_017019208.2:c.180+51939_180+51940insGA | XP_016874697.1:n.180+51939_180+51940insGA | |
| XM_017019209.2:c.180+51939_180+51940insGA | XP_016874698.1:n.180+51939_180+51940insGA | |
| NM_173598.6:c.180+51939_180+51940insGA MANE Select | NP_775869.4:n.180+51939_180+51940insGA |