Linked Data
ClinVar Variation Id:
3073898
ClinVar RCV Id:
RCV004012440
dbSNP Id:
rs144935943
ExAC:
1:201027603 G / C
gnomAD v2:
1-201027603-G-C
gnomAD v4:
1-201058475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201058475G>C , CM000663.2:g.201058475G>C | GRCh38 |
| NC_000001.10:g.201027603G>C , CM000663.1:g.201027603G>C | GRCh37 |
| NC_000001.9:g.199294226G>C | NCBI36 |
| NG_009816.1:g.59092C>G | |
| NG_009816.2:g.59092C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3542C>G MANE Select | ENSP00000355192.3:p.Pro1181Arg | |
| ENST00000679417.1:c.*2705C>G | ENSP00000506706.1:n.*2705C>G | |
| ENST00000680051.1:n.668C>G | ||
| ENST00000680059.1:c.*1060C>G | ENSP00000504944.1:n.*1060C>G | |
| ENST00000681078.1:c.3542C>G | ENSP00000506645.1:p.Pro1181Arg | |
| ENST00000681190.1:c.3542C>G | ENSP00000506428.1:p.Pro1181Arg | |
| ENST00000681874.1:c.3482C>G | ENSP00000505162.1:p.Pro1161Arg | |
| ENST00000362061.3:c.3542C>G | ENSP00000355192.3:p.Pro1181Arg | |
| ENST00000367338.7:c.3542C>G | ENSP00000356307.3:p.Pro1181Arg | |
| NM_000069.2:c.3542C>G | NP_000060.2:p.Pro1181Arg | |
| XM_005245478.2:c.3542C>G | XP_005245535.1:p.Pro1181Arg | |
| XM_005245478.3:c.3542C>G | XP_005245535.1:p.Pro1181Arg | |
| NM_000069.3:c.3542C>G MANE Select | NP_000060.2:p.Pro1181Arg |