Linked Data
dbSNP Id:
rs1432192789
gnomAD v2:
16-3842008-T-G
gnomAD v3:
16-3792007-T-G
gnomAD v4:
16-3792007-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3792007T>G , CM000678.2:g.3792007T>G | GRCh38 |
| NC_000016.9:g.3842008T>G , CM000678.1:g.3842008T>G | GRCh37 |
| NC_000016.8:g.3782009T>G | NCBI36 |
| NG_009873.1:g.93114A>C | |
| NG_009873.2:g.93707A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1304A>C MANE Select | ENSP00000262367.5:p.Asn435Thr | |
| ENST00000262367.9:c.1304A>C | ENSP00000262367.5:p.Asn435Thr | |
| ENST00000382070.7:c.1216+1379A>C | ENSP00000371502.3:n.1216+1379A>C | |
| NM_001079846.1:c.1216+1379A>C | NP_001073315.1:n.1216+1379A>C | |
| NM_004380.2:c.1304A>C | NP_004371.2:p.Asn435Thr | |
| XM_005255124.3:c.1304A>C | XP_005255181.1:p.Asn435Thr | |
| XM_005255125.3:c.1304A>C | XP_005255182.1:p.Asn435Thr | |
| XM_006720848.2:c.1304A>C | XP_006720911.1:p.Asn435Thr | |
| XM_011522380.1:c.1250A>C | XP_011520682.1:p.Asn417Thr | |
| XM_011522381.1:c.551A>C | XP_011520683.1:p.Asn184Thr | |
| XM_011522382.1:c.1304A>C | XP_011520684.1:p.Asn435Thr | |
| XM_005255124.4:c.1304A>C | XP_005255181.1:p.Asn435Thr | |
| XM_005255125.4:c.1304A>C | XP_005255182.1:p.Asn435Thr | |
| XM_006720848.3:c.1304A>C | XP_006720911.1:p.Asn435Thr | |
| XM_011522381.2:c.551A>C | XP_011520683.1:p.Asn184Thr | |
| XM_011522382.3:c.1304A>C | XP_011520684.1:p.Asn435Thr | |
| XM_017022944.1:c.1304A>C | XP_016878433.1:p.Asn435Thr | |
| NM_004380.3:c.1304A>C MANE Select | NP_004371.2:p.Asn435Thr |