Linked Data
ClinVar Variation Id:
1961714
dbSNP Id:
rs146706542
ExAC:
7:70228093 G / C
gnomAD v2:
7-70228093-G-C
gnomAD v3:
7-70763107-G-C
gnomAD v4:
7-70763107-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70763107G>C , CM000669.2:g.70763107G>C | GRCh38 |
| NC_000007.13:g.70228093G>C , CM000669.1:g.70228093G>C | GRCh37 |
| NC_000007.12:g.69866029G>C | NCBI36 |
| NG_034133.1:g.1169189G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.980G>C MANE Select | ENSP00000344087.4:p.Arg327Pro | |
| ENST00000443672.2:c.-197-3007G>C | ENSP00000393548.2:n.-197-3007G>C | |
| ENST00000644359.1:c.-392G>C | ENSP00000494561.1:n.-392G>C | |
| ENST00000644506.1:c.-392G>C | ENSP00000496672.1:n.-392G>C | |
| ENST00000644939.1:c.980G>C | ENSP00000496726.1:p.Arg327Pro | |
| ENST00000656200.1:c.-395G>C | ENSP00000499508.1:n.-395G>C | |
| ENST00000342771.8:c.980G>C | ENSP00000344087.4:p.Arg327Pro | |
| ENST00000406775.6:c.980G>C | ENSP00000385263.2:p.Arg327Pro | |
| ENST00000416482.1:c.321G>C | ||
| ENST00000611706.4:c.236G>C | ENSP00000478134.1:p.Arg79Pro | |
| ENST00000615871.4:c.236G>C | ENSP00000479325.1:p.Arg79Pro | |
| NM_001127231.2:c.980G>C | NP_001120703.1:p.Arg327Pro | |
| NM_015570.3:c.980G>C | NP_056385.1:p.Arg327Pro | |
| XM_011516010.1:c.980G>C | XP_011514312.1:p.Arg327Pro | |
| XM_011516011.1:c.980G>C | XP_011514313.1:p.Arg327Pro | |
| XM_011516012.1:c.980G>C | XP_011514314.1:p.Arg327Pro | |
| XM_011516013.1:c.980G>C | XP_011514315.1:p.Arg327Pro | |
| XM_011516014.1:c.980G>C | XP_011514316.1:p.Arg327Pro | |
| XM_011516015.1:c.980G>C | XP_011514317.1:p.Arg327Pro | |
| XM_011516016.1:c.689G>C | XP_011514318.1:p.Arg230Pro | |
| XM_011516017.1:c.506G>C | XP_011514319.1:p.Arg169Pro | |
| XM_011516018.1:c.479G>C | XP_011514320.1:p.Arg160Pro | |
| XM_011516010.2:c.980G>C | XP_011514312.1:p.Arg327Pro | |
| XM_011516011.2:c.980G>C | XP_011514313.1:p.Arg327Pro | |
| XM_011516012.2:c.980G>C | XP_011514314.1:p.Arg327Pro | |
| XM_011516013.2:c.980G>C | XP_011514315.1:p.Arg327Pro | |
| XM_011516014.2:c.980G>C | XP_011514316.1:p.Arg327Pro | |
| XM_011516017.2:c.506G>C | XP_011514319.1:p.Arg169Pro | |
| XM_011516018.2:c.479G>C | XP_011514320.1:p.Arg160Pro | |
| XM_017011951.2:c.980G>C | XP_016867440.1:p.Arg327Pro | |
| NM_001127231.3:c.980G>C | NP_001120703.1:p.Arg327Pro | |
| NM_015570.4:c.980G>C MANE Select | NP_056385.1:p.Arg327Pro |