Linked Data
dbSNP Id:
rs1562866173
gnomAD v2:
7-92146720-A-T
gnomAD v3:
7-92517406-A-T
gnomAD v4:
7-92517406-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517406A>T , CM000669.2:g.92517406A>T | GRCh38 |
| NC_000007.13:g.92146720A>T , CM000669.1:g.92146720A>T | GRCh37 |
| NC_000007.12:g.91984656A>T | NCBI36 |
| NG_008341.1:g.16126T>A | |
| NG_008341.2:g.16126T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1109T>A MANE Select | ENSP00000248633.4:p.Ile370Asn | |
| ENST00000248633.8:c.1109T>A | ENSP00000248633.4:p.Ile370Asn | |
| ENST00000422866.1:c.10T>A | ||
| ENST00000428214.5:c.1109T>A | ENSP00000394413.1:p.Ile370Asn | |
| ENST00000438045.5:c.274-3439T>A | ENSP00000410438.1:n.274-3439T>A | |
| ENST00000484913.5:n.1148T>A | ||
| NM_000466.2:c.1109T>A | NP_000457.1:p.Ile370Asn | |
| NM_001282677.1:c.1109T>A | NP_001269606.1:p.Ile370Asn | |
| NM_001282678.1:c.485T>A | NP_001269607.1:p.Ile162Asn | |
| XR_242246.3:n.1205T>A | ||
| XM_017012319.2:c.-558T>A | XP_016867808.1:n.-558T>A | |
| XR_001744808.2:n.219T>A | ||
| XR_242246.5:n.1156T>A | ||
| NM_000466.3:c.1109T>A MANE Select | NP_000457.1:p.Ile370Asn | |
| NM_001282677.2:c.1109T>A | NP_001269606.1:p.Ile370Asn | |
| NM_001282678.2:c.485T>A | NP_001269607.1:p.Ile162Asn |