Linked Data
dbSNP Id:
rs374254046
ExAC:
16:4812305 C / T
gnomAD v2:
16-4812305-C-T
gnomAD v3:
16-4762304-C-T
gnomAD v4:
16-4762304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762304C>T , CM000678.2:g.4762304C>T | GRCh38 |
| NC_000016.9:g.4812305C>T , CM000678.1:g.4812305C>T | GRCh37 |
| NC_000016.8:g.4752306C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.630G>A MANE Select | ENSP00000219478.5:p.Ala210= | |
| ENST00000219478.10:c.630G>A | ENSP00000219478.5:p.Ala210= | |
| ENST00000545009.1:c.630G>A | ENSP00000445714.1:p.Ala210= | |
| ENST00000589422.1:c.*158G>A | ENSP00000466375.1:n.*158G>A | |
| NM_001303450.1:c.630G>A | NP_001290379.1:p.Ala210= | |
| NM_021646.2:c.630G>A | NP_067678.1:p.Ala210= | |
| XM_005255243.2:c.279G>A | XP_005255300.1:p.Ala93= | |
| XM_011522453.1:c.630G>A | XP_011520755.1:p.Ala210= | |
| XM_011522454.1:c.6G>A | XP_011520756.1:p.Ala2= | |
| NM_021646.3:c.630G>A | NP_067678.1:p.Ala210= | |
| XM_005255243.4:c.279G>A | XP_005255300.1:p.Ala93= | |
| XM_011522453.2:c.630G>A | XP_011520755.1:p.Ala210= | |
| XM_011522454.3:c.6G>A | XP_011520756.1:p.Ala2= | |
| XM_017023121.2:c.6G>A | XP_016878610.1:p.Ala2= | |
| NM_001303450.2:c.630G>A | NP_001290379.1:p.Ala210= | |
| NM_021646.4:c.630G>A MANE Select | NP_067678.1:p.Ala210= |