Linked Data
dbSNP Id:
rs398122026
gnomAD v2:
X-38240555-G-GTT
gnomAD v3:
X-38381302-G-GTT
gnomAD v4:
X-38381302-G-GTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381307_38381308dup , CM000685.2:g.38381307_38381308dup | GRCh38 |
| NC_000023.10:g.38240560_38240561dup , CM000685.1:g.38240560_38240561dup | GRCh37 |
| NC_000023.9:g.38125504_38125505dup | NCBI36 |
| NG_008471.1:g.33825_33826dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.299-35_299-34dup MANE Select | ENSP00000039007.4:n.299-35_299-34dup | |
| ENST00000643344.1:c.*49-35_*49-34dup | ENSP00000496606.1:n.*49-35_*49-34dup | |
| ENST00000039007.4:c.299-35_299-34dup | ENSP00000039007.4:n.299-35_299-34dup | |
| ENST00000465127.1:c.172-284814_172-284813dup | ENSP00000417050.1:n.172-284814_172-284813dup | |
| ENST00000488812.1:n.354-53_354-52dup | ||
| NM_000531.5:c.299-35_299-34dup | NP_000522.3:n.299-35_299-34dup | |
| XM_017029556.1:c.299-35_299-34dup | XP_016885045.1:n.299-35_299-34dup | |
| NM_000531.6:c.299-35_299-34dup MANE Select | NP_000522.3:n.299-35_299-34dup |