Linked Data
ClinVar Variation Id:
167190
dbSNP Id:
rs199801029
ExAC:
4:996063 G / C
gnomAD v2:
4-996063-G-C
gnomAD v3:
4-1002275-G-C
gnomAD v4:
4-1002275-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002275G>C , CM000666.2:g.1002275G>C | GRCh38 |
| NC_000004.11:g.996063G>C , CM000666.1:g.996063G>C | GRCh37 |
| NC_000004.10:g.986063G>C | NCBI36 |
| NG_008103.1:g.20279G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.979G>C | ENSP00000247933.4:p.Ala327Pro | |
| ENST00000514224.2:c.979G>C MANE Select | ENSP00000425081.2:p.Ala327Pro | |
| ENST00000652070.1:n.1035G>C | ||
| ENST00000247933.8:c.979G>C | ENSP00000247933.4:p.Ala327Pro | |
| ENST00000514224.1:c.583G>C | ENSP00000425081.1:p.Ala195Pro | |
| ENST00000514698.5:n.1086G>C | ||
| NM_000203.4:c.979G>C | NP_000194.2:p.Ala327Pro | |
| NR_110313.1:n.1067G>C | ||
| XM_006713882.2:c.583G>C | XP_006713945.1:p.Ala195Pro | |
| XM_011513459.1:c.1045G>C | XP_011511761.1:p.Ala349Pro | |
| XM_011513460.1:c.838G>C | XP_011511762.1:p.Ala280Pro | |
| XM_011513461.1:c.772G>C | XP_011511763.1:p.Ala258Pro | |
| XM_011513462.1:c.691G>C | XP_011511764.1:p.Ala231Pro | |
| XM_011513463.1:c.691G>C | XP_011511765.1:p.Ala231Pro | |
| XR_924947.1:n.1048G>C | ||
| NM_000203.5:c.979G>C MANE Select | NP_000194.2:p.Ala327Pro | |
| NM_001363576.1:c.583G>C | NP_001350505.1:p.Ala195Pro | |
| XM_011513461.2:c.772G>C | XP_011511763.1:p.Ala258Pro | |
| XM_017008163.1:c.19G>C | XP_016863652.1:p.Ala7Pro |