Linked Data
dbSNP Id:
rs764135305
ExAC:
6:30692087 C / A
gnomAD v2:
6-30692087-C-A
gnomAD v4:
6-30724310-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30724310C>A , CM000668.2:g.30724310C>A | GRCh38 |
| NC_000006.11:g.30692087C>A , CM000668.1:g.30692087C>A | GRCh37 |
| NC_000006.10:g.30800066C>A | NCBI36 |
| NG_034142.1:g.9110C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.1248C>A MANE Select | ENSP00000339001.7:p.Asn416Lys | |
| ENST00000680530.1:n.2110C>A | ||
| ENST00000681421.1:n.2314C>A | ||
| ENST00000681435.1:c.1032C>A | ENSP00000506665.1:p.Asn344Lys | |
| ENST00000327892.12:c.1248C>A | ENSP00000339001.7:p.Asn416Lys | |
| ENST00000330914.7:c.1032C>A | ENSP00000365578.2:p.Asn344Lys | |
| ENST00000396384.1:c.1032C>A | ENSP00000379668.1:p.Asn344Lys | |
| ENST00000396389.5:c.1194C>A | ENSP00000379672.1:p.Asn398Lys | |
| NM_001293212.1:c.1308C>A | NP_001280141.1:p.Asn436Lys | |
| NM_001293213.1:c.642C>A | NP_001280142.1:p.Asn214Lys | |
| NM_001293214.1:c.1116C>A | NP_001280143.1:p.Asn372Lys | |
| NM_001293215.1:c.1032C>A | NP_001280144.1:p.Asn344Lys | |
| NM_001293216.1:c.1032C>A | NP_001280145.1:p.Asn344Lys | |
| NM_178014.3:c.1248C>A | NP_821133.1:p.Asn416Lys | |
| NR_120608.1:n.955C>A | ||
| NM_178014.4:c.1248C>A MANE Select | NP_821133.1:p.Asn416Lys | |
| NM_001293212.2:c.1308C>A | NP_001280141.1:p.Asn436Lys | |
| NM_001293213.2:c.642C>A | NP_001280142.1:p.Asn214Lys | |
| NM_001293214.2:c.1116C>A | NP_001280143.1:p.Asn372Lys | |
| NM_001293215.2:c.1032C>A | NP_001280144.1:p.Asn344Lys | |
| NM_001293216.2:c.1032C>A | NP_001280145.1:p.Asn344Lys | |
| NR_120608.2:n.804C>A |