gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171117382T>C , CM000663.2:g.171117382T>C | GRCh38 |
| NC_000001.10:g.171086522T>C , CM000663.1:g.171086522T>C | GRCh37 |
| NC_000001.9:g.169353146T>C | NCBI36 |
| NG_012690.1:g.31505T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.1539T>C MANE Select | ENSP00000356729.4:p.His513= | |
| ENST00000367755.8:c.1539T>C | ENSP00000356729.4:p.His513= | |
| NM_001002294.2:c.1539T>C | NP_001002294.1:p.His513= | |
| NM_006894.5:c.1539T>C | NP_008825.4:p.His513= | |
| XM_005245044.1:c.1350T>C | XP_005245101.1:p.His450= | |
| XM_011509345.1:c.1479T>C | XP_011507647.1:p.His493= | |
| XM_011509346.1:c.1479T>C | XP_011507648.1:p.His493= | |
| NM_001319173.1:c.1479T>C | NP_001306102.1:p.His493= | |
| NM_001319174.1:c.1350T>C | NP_001306103.1:p.His450= | |
| XM_011509345.3:c.1479T>C | XP_011507647.1:p.His493= | |
| XM_024454365.1:c.792T>C | XP_024310133.1:p.His264= | |
| NM_001002294.3:c.1539T>C MANE Select | NP_001002294.1:p.His513= | |
| NM_001319173.2:c.1479T>C | NP_001306102.1:p.His493= | |
| NM_001319174.2:c.1350T>C | NP_001306103.1:p.His450= | |
| NM_006894.6:c.1539T>C | NP_008825.4:p.His513= |