Linked Data
dbSNP Id:
rs749879849
ExAC:
12:21699427 T / TA
gnomAD v2:
12-21699427-T-TA
gnomAD v3:
12-21546493-T-TA
gnomAD v4:
12-21546493-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21546502dup , CM000674.2:g.21546502dup | GRCh38 |
| NC_000012.11:g.21699436dup , CM000674.1:g.21699436dup | GRCh37 |
| NC_000012.10:g.21590703dup | NCBI36 |
| NG_016167.1:g.63354dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.1423-24dup MANE Select | ENSP00000261195.2:n.1423-24dup | |
| ENST00000647960.1:c.*1425-24dup | ENSP00000497202.1:n.*1425-24dup | |
| ENST00000261195.2:c.1423-24dup | ENSP00000261195.2:n.1423-24dup | |
| NM_021957.3:c.1423-24dup | NP_068776.2:n.1423-24dup | |
| XM_005253352.1:c.1423-24dup | XP_005253409.1:n.1423-24dup | |
| XM_005253354.2:c.1204-24dup | XP_005253411.1:n.1204-24dup | |
| XM_006719062.2:c.1423-24dup | XP_006719125.1:n.1423-24dup | |
| XM_006719063.2:c.1192-24dup | XP_006719126.1:n.1192-24dup | |
| NM_021957.4:c.1423-24dup MANE Select | NP_068776.2:n.1423-24dup | |
| XM_006719063.3:c.1192-24dup | XP_006719126.1:n.1192-24dup | |
| XM_024448960.1:c.1423-24dup | XP_024304728.1:n.1423-24dup |