Linked Data
dbSNP Id:
rs775816150
ExAC:
4:996204 A / C
gnomAD v2:
4-996204-A-C
gnomAD v4:
4-1002416-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002416A>C , CM000666.2:g.1002416A>C | GRCh38 |
| NC_000004.11:g.996204A>C , CM000666.1:g.996204A>C | GRCh37 |
| NC_000004.10:g.986204A>C | NCBI36 |
| NG_008103.1:g.20420A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1120A>C | ENSP00000247933.4:p.Thr374Pro | |
| ENST00000514224.2:c.1120A>C MANE Select | ENSP00000425081.2:p.Thr374Pro | |
| ENST00000652070.1:n.1176A>C | ||
| ENST00000247933.8:c.1120A>C | ENSP00000247933.4:p.Thr374Pro | |
| ENST00000514224.1:c.724A>C | ENSP00000425081.1:p.Thr242Pro | |
| ENST00000514698.5:n.1227A>C | ||
| NM_000203.4:c.1120A>C | NP_000194.2:p.Thr374Pro | |
| NR_110313.1:n.1208A>C | ||
| XM_006713882.2:c.724A>C | XP_006713945.1:p.Thr242Pro | |
| XM_011513459.1:c.1186A>C | XP_011511761.1:p.Thr396Pro | |
| XM_011513460.1:c.979A>C | XP_011511762.1:p.Thr327Pro | |
| XM_011513461.1:c.913A>C | XP_011511763.1:p.Thr305Pro | |
| XM_011513462.1:c.832A>C | XP_011511764.1:p.Thr278Pro | |
| XM_011513463.1:c.832A>C | XP_011511765.1:p.Thr278Pro | |
| XR_924947.1:n.1189A>C | ||
| NM_000203.5:c.1120A>C MANE Select | NP_000194.2:p.Thr374Pro | |
| NM_001363576.1:c.724A>C | NP_001350505.1:p.Thr242Pro | |
| XM_011513461.2:c.913A>C | XP_011511763.1:p.Thr305Pro | |
| XM_017008163.1:c.160A>C | XP_016863652.1:p.Thr54Pro |