Linked Data
ClinVar Variation Id:
2434829
ClinVar RCV Id:
RCV003131953
dbSNP Id:
rs536129455
gnomAD v2:
18-10762598-G-C
gnomAD v3:
18-10762600-G-C
gnomAD v4:
18-10762600-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10762600G>C , CM000680.2:g.10762600G>C | GRCh38 |
| NC_000018.9:g.10762598G>C , CM000680.1:g.10762598G>C | GRCh37 |
| NC_000018.8:g.10752598G>C | NCBI36 |
| NG_034005.1:g.391163C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.3149C>G | ENSP00000372900.4:p.Pro1050Arg | |
| ENST00000686869.1:n.3206C>G | ||
| ENST00000674853.1:c.3149C>G MANE Select | ENSP00000501957.1:p.Pro1050Arg | |
| ENST00000302079.10:c.3074C>G | ENSP00000303316.6:p.Pro1025Arg | |
| ENST00000383408.6:c.2927C>G | ENSP00000372900.3:p.Pro976Arg | |
| ENST00000503781.7:c.3074C>G | ENSP00000421377.3:p.Pro1025Arg | |
| ENST00000580640.5:c.3149C>G | ENSP00000463094.1:p.Pro1050Arg | |
| ENST00000582913.5:c.3116C>G | ENSP00000462115.1:p.Pro1039Arg | |
| NM_022068.3:c.3074C>G | NP_071351.2:p.Pro1025Arg | |
| XM_011525723.1:c.3206C>G | XP_011524025.1:p.Pro1069Arg | |
| XM_011525724.1:c.3149C>G | XP_011524026.1:p.Pro1050Arg | |
| XM_011525725.1:c.3116C>G | XP_011524027.1:p.Pro1039Arg | |
| XM_011525726.1:c.3206C>G | XP_011524028.1:p.Pro1069Arg | |
| XM_011525727.1:c.3206C>G | XP_011524029.1:p.Pro1069Arg | |
| XM_011525723.3:c.3206C>G | XP_011524025.1:p.Pro1069Arg | |
| XM_011525724.3:c.3149C>G | XP_011524026.1:p.Pro1050Arg | |
| XM_011525725.3:c.3116C>G | XP_011524027.1:p.Pro1039Arg | |
| XM_011525726.3:c.3206C>G | XP_011524028.1:p.Pro1069Arg | |
| XM_017025918.2:c.3167C>G | XP_016881407.1:p.Pro1056Arg | |
| XR_001753259.2:n.4203C>G | ||
| NM_001378183.1:c.3149C>G MANE Select | NP_001365112.1:p.Pro1050Arg | |
| NM_022068.4:c.3074C>G | NP_071351.2:p.Pro1025Arg |