Linked Data
dbSNP Id:
rs560587976
ExAC:
9:133748305 C / A
gnomAD v3:
9-130872918-C-A
gnomAD v4:
9-130872918-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872918C>A , CM000671.2:g.130872918C>A | GRCh38 |
| NC_000009.11:g.133748305C>A , CM000671.1:g.133748305C>A | GRCh37 |
| NC_000009.10:g.132738126C>A | NCBI36 |
| NG_012034.1:g.164038C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1023C>A | ENSP00000361423.2:p.Asn341Lys | |
| ENST00000318560.6:c.966C>A MANE Select | ENSP00000323315.5:p.Asn322Lys | |
| ENST00000372348.7:c.1023C>A | ENSP00000361423.2:p.Asn341Lys | |
| ENST00000318560.5:c.966C>A | ENSP00000323315.5:p.Asn322Lys | |
| ENST00000372348.6:c.1023C>A | ENSP00000361423.2:p.Asn341Lys | |
| NM_005157.5:c.966C>A | NP_005148.2:p.Asn322Lys | |
| NM_007313.2:c.1023C>A | NP_009297.2:p.Asn341Lys | |
| NM_005157.6:c.966C>A MANE Select | NP_005148.2:p.Asn322Lys | |
| NM_007313.3:c.1023C>A | NP_009297.2:p.Asn341Lys |