Linked Data
ClinVar Variation Id:
365879
dbSNP Id:
rs147967974
ExAC:
9:139324801 G / C
gnomAD v2:
9-139324801-G-C
gnomAD v3:
9-136430349-G-C
gnomAD v4:
9-136430349-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136430349G>C , CM000671.2:g.136430349G>C | GRCh38 |
| NC_000009.11:g.139324801G>C , CM000671.1:g.139324801G>C | GRCh37 |
| NC_000009.10:g.138444622G>C | NCBI36 |
| NG_016126.1:g.14456C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1730C>G MANE Select | ENSP00000360777.3:p.Pro577Arg | |
| ENST00000674693.1:n.247C>G | ||
| ENST00000676019.1:c.1628C>G | ENSP00000501984.1:p.Pro543Arg | |
| ENST00000371712.3:c.1730C>G | ENSP00000360777.3:p.Pro577Arg | |
| NM_019892.4:c.1730C>G | NP_063945.2:p.Pro577Arg | |
| XM_005266094.2:c.1727C>G | XP_005266151.1:p.Pro576Arg | |
| NM_001318502.1:c.1727C>G | NP_001305431.1:p.Pro576Arg | |
| NM_019892.5:c.1730C>G | NP_063945.2:p.Pro577Arg | |
| XM_017014926.1:c.1730C>G | XP_016870415.1:p.Pro577Arg | |
| XR_929828.2:n.2335C>G | ||
| NM_019892.6:c.1730C>G MANE Select | NP_063945.2:p.Pro577Arg | |
| NM_001318502.2:c.1727C>G | NP_001305431.1:p.Pro576Arg |