Linked Data
dbSNP Id:
rs770011561
ExAC:
16:27454353 T / C
gnomAD v2:
16-27454353-T-C
gnomAD v4:
16-27443032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27443032T>C , CM000678.2:g.27443032T>C | GRCh38 |
| NC_000016.9:g.27454353T>C , CM000678.1:g.27454353T>C | GRCh37 |
| NC_000016.8:g.27361854T>C | NCBI36 |
| NG_012222.1:g.45631T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697146.1:c.*19T>C | ENSP00000513135.1:n.*19T>C | |
| ENST00000337929.8:c.423T>C MANE Select | ENSP00000338010.3:p.Asp141= | |
| ENST00000337929.7:c.423T>C | ENSP00000338010.3:p.Asp141= | |
| ENST00000395754.4:c.423T>C | ENSP00000379103.4:p.Asp141= | |
| ENST00000561953.1:n.363T>C | ||
| ENST00000564089.5:c.423T>C | ENSP00000456707.1:p.Asp141= | |
| NM_021798.3:c.423T>C | NP_068570.1:p.Asp141= | |
| NM_181078.2:c.423T>C | NP_851564.1:p.Asp141= | |
| NM_181079.4:c.489T>C | NP_851565.4:p.Asp163= | |
| XM_011545857.1:c.489T>C | XP_011544159.1:p.Asp163= | |
| XM_011545858.1:c.136-1510T>C | XP_011544160.1:n.136-1510T>C | |
| XM_011545857.3:c.489T>C | XP_011544159.1:p.Asp163= | |
| XM_011545858.3:c.136-1510T>C | XP_011544160.1:n.136-1510T>C | |
| XM_017023257.2:c.423T>C | XP_016878746.1:p.Asp141= | |
| NM_181078.3:c.423T>C MANE Select | NP_851564.1:p.Asp141= | |
| NM_021798.4:c.423T>C | NP_068570.1:p.Asp141= | |
| NM_181079.5:c.489T>C | NP_851565.4:p.Asp163= |