Linked Data
dbSNP Id:
rs369364877
ExAC:
11:67804000 C / A
gnomAD v2:
11-67804000-C-A
gnomAD v3:
11-68036533-C-A
gnomAD v4:
11-68036533-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036533C>A , CM000673.2:g.68036533C>A | GRCh38 |
| NC_000011.9:g.67804000C>A , CM000673.1:g.67804000C>A | GRCh37 |
| NC_000011.8:g.67560576C>A | NCBI36 |
| NG_007878.1:g.2518C>A , LRG_115:g.2518C>A | |
| NG_017040.1:g.10917C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.573C>A MANE Select | ENSP00000315774.5:p.Asn191Lys | |
| ENST00000313468.9:c.573C>A | ENSP00000315774.5:p.Asn191Lys | |
| ENST00000524810.5:c.505C>A | ||
| ENST00000526446.5:c.*628C>A | ENSP00000433645.1:n.*628C>A | |
| ENST00000528492.1:c.135C>A | ENSP00000432848.1:p.Asn45Lys | |
| ENST00000531282.1:n.425C>A | ||
| NM_002496.3:c.573C>A | NP_002487.1:p.Asn191Lys | |
| XM_005274013.1:c.573C>A | XP_005274070.1:p.Asn191Lys | |
| XM_005274014.1:c.573C>A | XP_005274071.1:p.Asn191Lys | |
| XM_005274015.1:c.453C>A | XP_005274072.1:p.Asn151Lys | |
| XM_011545053.1:c.573C>A | XP_011543355.1:p.Asn191Lys | |
| NM_002496.4:c.573C>A MANE Select | NP_002487.1:p.Asn191Lys |