Linked Data
dbSNP Id:
rs943666996
gnomAD v2:
12-56843989-G-GA
gnomAD v3:
12-56450205-G-GA
gnomAD v4:
12-56450205-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450213dup , CM000674.2:g.56450213dup | GRCh38 |
| NC_000012.11:g.56843997dup , CM000674.1:g.56843997dup | GRCh37 |
| NC_000012.10:g.55130264dup | NCBI36 |
| NG_021397.1:g.9446dup | |
| NG_021397.2:g.23961dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1490dup | ENSP00000497190.1:n.*1490dup | |
| ENST00000652304.1:c.*1074dup MANE Select | ENSP00000498622.1:n.*1074dup | |
| ENST00000257979.4:c.*1074dup | ENSP00000257979.4:n.*1074dup | |
| NM_012064.3:c.*1074dup | NP_036196.1:n.*1074dup | |
| XM_011538354.1:c.*1074dup | XP_011536656.1:n.*1074dup | |
| NM_012064.4:c.*1074dup MANE Select | NP_036196.1:n.*1074dup | |
| XM_017019306.1:c.*1074dup | XP_016874795.1:n.*1074dup |