ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000418 (SAS)
Exomes Max Group AF
0.00000444 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54180784T>G , CM000681.2:g.54180784T>G | GRCh38 |
| NC_000019.8:g.59376313T>G | NCBI36 |
| NG_033045.2:g.14092A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.843A>C MANE Select | ENSP00000245615.1:p.Pro281= | |
| ENST00000245615.5:c.843A>C | ENSP00000245615.1:p.Pro281= | |
| ENST00000338624.10:c.624A>C | ENSP00000344377.5:p.Pro208= | |
| ENST00000391754.5:c.843A>C | ENSP00000375634.1:p.Pro281= | |
| ENST00000431666.6:c.624A>C | ENSP00000410503.2:p.Pro208= | |
| ENST00000437868.5:c.*503A>C | ENSP00000404915.1:n.*503A>C | |
| ENST00000449249.5:c.349+2737A>C | ENSP00000406794.1:n.349+2737A>C | |
| ENST00000494142.1:n.7A>C | ||
| ENST00000495279.2:c.464A>C | ||
| NM_001146056.2:c.624A>C | NP_001139528.1:p.Pro208= | |
| NM_001146082.2:c.843A>C | NP_001139554.1:p.Pro281= | |
| NM_001146083.2:c.624A>C | NP_001139555.1:p.Pro208= | |
| NM_024298.4:c.843A>C | NP_077274.3:p.Pro281= | |
| XM_011527299.1:c.843A>C | XP_011525601.1:p.Pro281= | |
| XM_011527300.1:c.843A>C | XP_011525602.1:p.Pro281= | |
| XM_011527299.3:c.843A>C | XP_011525601.1:p.Pro281= | |
| XM_011527300.2:c.843A>C | XP_011525602.1:p.Pro281= | |
| XM_017027296.2:c.843A>C | XP_016882785.1:p.Pro281= | |
| NM_024298.5:c.843A>C MANE Select | NP_077274.3:p.Pro281= | |
| NM_001146056.3:c.624A>C | NP_001139528.1:p.Pro208= | |
| NM_001146082.3:c.843A>C | NP_001139554.1:p.Pro281= | |
| NM_001146083.3:c.624A>C | NP_001139555.1:p.Pro208= |