gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191742T>C , CM000669.2:g.55191742T>C | GRCh38 |
| NC_000007.13:g.55259435T>C , CM000669.1:g.55259435T>C | GRCh37 |
| NC_000007.12:g.55226929T>C | NCBI36 |
| NG_007726.3:g.177711T>C , LRG_304:g.177711T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2334T>C | ENSP00000413354.2:p.Arg778= | |
| ENST00000700145.1:c.842T>C | ||
| ENST00000275493.7:c.2493T>C MANE Select | ENSP00000275493.2:p.Arg831= | |
| ENST00000275493.6:c.2493T>C | ENSP00000275493.2:p.Arg831= | |
| ENST00000442591.5:c.*28+18814T>C | ENSP00000410031.1:n.*28+18814T>C | |
| ENST00000454757.6:c.2358T>C | ENSP00000395243.3:p.Arg786= | |
| ENST00000455089.5:c.2358T>C | ENSP00000415559.1:p.Arg786= | |
| NM_005228.3:c.2493T>C , LRG_304t1:c.2493T>C | NP_005219.2:p.Arg831= | |
| NM_001346897.1:c.2358T>C | NP_001333826.1:p.Arg786= | |
| NM_001346898.1:c.2493T>C | NP_001333827.1:p.Arg831= | |
| NM_001346899.1:c.2358T>C | NP_001333828.1:p.Arg786= | |
| NM_001346900.1:c.2334T>C | NP_001333829.1:p.Arg778= | |
| NM_001346941.1:c.1692T>C | NP_001333870.1:p.Arg564= | |
| NM_005228.4:c.2493T>C | NP_005219.2:p.Arg831= | |
| NM_005228.5:c.2493T>C MANE Select | NP_005219.2:p.Arg831= | |
| NM_001346897.2:c.2358T>C | NP_001333826.1:p.Arg786= | |
| NM_001346898.2:c.2493T>C | NP_001333827.1:p.Arg831= | |
| NM_001346900.2:c.2334T>C | NP_001333829.1:p.Arg778= | |
| NM_001346941.2:c.1692T>C | NP_001333870.1:p.Arg564= | |
| NM_001346899.2:c.2358T>C | NP_001333828.1:p.Arg786= |