Linked Data
ClinVar Variation Id:
2413653
ClinVar RCV Id:
RCV003104449
dbSNP Id:
rs530886517
ExAC:
21:44270210 G / A
gnomAD v2:
21-44270210-G-A
gnomAD v3:
21-42850100-G-A
gnomAD v4:
21-42850100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42850100G>A , CM000683.2:g.42850100G>A | GRCh38 |
| NC_000021.8:g.44270210G>A , CM000683.1:g.44270210G>A | GRCh37 |
| NC_000021.7:g.43143279G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398208.3:c.1188C>T MANE Select | ENSP00000381266.2:p.Pro396= | |
| ENST00000330317.6:c.1188C>T | ENSP00000328671.2:p.Pro396= | |
| ENST00000398208.2:c.1188C>T | ENSP00000381266.2:p.Pro396= | |
| ENST00000476326.5:n.1103C>T | ||
| ENST00000492742.5:n.1331C>T | ||
| NM_001260474.1:c.1185C>T | NP_001247403.1:p.Pro395= | |
| NM_001260475.1:c.750C>T | NP_001247404.1:p.Pro250= | |
| NM_001260476.1:c.750C>T | NP_001247405.1:p.Pro250= | |
| NM_001260477.1:c.750C>T | NP_001247406.1:p.Pro250= | |
| NM_018669.5:c.1188C>T | NP_061139.2:p.Pro396= | |
| NM_033661.4:c.1188C>T | NP_387510.1:p.Pro396= | |
| NR_048535.1:n.1168C>T | ||
| XM_011529433.1:c.1176C>T | XP_011527735.1:p.Pro392= | |
| XR_937429.1:n.1262C>T | ||
| XR_937430.1:n.1262C>T | ||
| XR_937431.1:n.1262C>T | ||
| XM_017028262.1:c.1083C>T | XP_016883751.1:p.Pro361= | |
| XM_017028263.1:c.918C>T | XP_016883752.1:p.Pro306= | |
| XM_017028264.1:c.918C>T | XP_016883753.1:p.Pro306= | |
| XM_024452047.1:c.750C>T | XP_024307815.1:p.Pro250= | |
| XM_024452048.1:c.750C>T | XP_024307816.1:p.Pro250= | |
| XM_024452049.1:c.750C>T | XP_024307817.1:p.Pro250= | |
| XM_024452050.1:c.750C>T | XP_024307818.1:p.Pro250= | |
| NM_018669.6:c.1188C>T MANE Select | NP_061139.2:p.Pro396= | |
| NM_001260474.2:c.1185C>T | NP_001247403.1:p.Pro395= | |
| NM_001260475.2:c.750C>T | NP_001247404.1:p.Pro250= | |
| NM_001260476.2:c.750C>T | NP_001247405.1:p.Pro250= | |
| NM_001260477.2:c.750C>T | NP_001247406.1:p.Pro250= | |
| NM_033661.5:c.1188C>T | NP_387510.1:p.Pro396= |