Linked Data
dbSNP Id:
rs776890855
ExAC:
7:92151582 G / GA
gnomAD v2:
7-92151582-G-GA
gnomAD v4:
7-92522268-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522274dup , CM000669.2:g.92522274dup | GRCh38 |
| NC_000007.13:g.92151588dup , CM000669.1:g.92151588dup | GRCh37 |
| NC_000007.12:g.91989524dup | NCBI36 |
| NG_008341.1:g.11263dup | |
| NG_008341.2:g.11263dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.130-24dup MANE Select | ENSP00000248633.4:n.130-24dup | |
| ENST00000248633.8:c.130-24dup | ENSP00000248633.4:n.130-24dup | |
| ENST00000428214.5:c.130-24dup | ENSP00000394413.1:n.130-24dup | |
| ENST00000438045.5:c.130-24dup | ENSP00000410438.1:n.130-24dup | |
| ENST00000484913.5:n.134-24dup | ||
| NM_000466.2:c.130-24dup | NP_000457.1:n.130-24dup | |
| NM_001282677.1:c.130-24dup | NP_001269606.1:n.130-24dup | |
| NM_001282678.1:c.-530-24dup | NP_001269607.1:n.-530-24dup | |
| XR_242246.3:n.226-24dup | ||
| XR_242246.5:n.177-24dup | ||
| NM_000466.3:c.130-24dup MANE Select | NP_000457.1:n.130-24dup | |
| NM_001282677.2:c.130-24dup | NP_001269606.1:n.130-24dup | |
| NM_001282678.2:c.-530-24dup | NP_001269607.1:n.-530-24dup |