gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00331207 (NFE)
Genomes Max Group AF
0.00335781 (NFE)
Exomes Max Group AF
0.00328905 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18543019T>C , CM000682.2:g.18543019T>C | GRCh38 |
| NC_000020.10:g.18523663T>C , CM000682.1:g.18523663T>C | GRCh37 |
| NC_000020.9:g.18471663T>C | NCBI36 |
| NG_016281.1:g.40476T>C | |
| NG_016281.2:g.40538T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336714.8:c.1512T>C | ENSP00000338844.3:p.Asn504= | |
| ENST00000377465.6:c.1512T>C | ENSP00000366685.1:p.Asn504= | |
| ENST00000643747.1:c.1458T>C | ENSP00000496460.1:p.Asn486= | |
| ENST00000650089.1:c.1512T>C MANE Select | ENSP00000497473.1:p.Asn504= | |
| ENST00000262544.6:c.1512T>C | ENSP00000262544.2:p.Asn504= | |
| ENST00000336714.7:c.1512T>C | ENSP00000338844.3:p.Asn504= | |
| ENST00000377465.5:c.1512T>C | ENSP00000366685.1:p.Asn504= | |
| ENST00000377475.7:c.1512T>C | ENSP00000366695.3:p.Asn504= | |
| ENST00000422877.1:c.36T>C | ENSP00000409882.1:p.Asn12= | |
| NM_001172745.1:c.1512T>C | NP_001166216.1:p.Asn504= | |
| NM_001172746.1:c.1458T>C | NP_001166217.1:p.Asn486= | |
| NM_006363.4:c.1512T>C | NP_006354.2:p.Asn504= | |
| NM_032985.4:c.1512T>C | NP_116780.1:p.Asn504= | |
| NM_032986.3:c.1512T>C | NP_116781.1:p.Asn504= | |
| NM_001172745.2:c.1512T>C | NP_001166216.1:p.Asn504= | |
| NM_001172746.2:c.1458T>C | NP_001166217.1:p.Asn486= | |
| NM_006363.6:c.1512T>C MANE Select | NP_006354.2:p.Asn504= | |
| NM_032985.5:c.1512T>C | NP_116780.1:p.Asn504= | |
| NM_032986.4:c.1512T>C | NP_116781.1:p.Asn504= | |
| XM_017027593.1:c.1512T>C | XP_016883082.1:p.Asn504= | |
| NM_001172745.3:c.1512T>C | NP_001166216.1:p.Asn504= | |
| NM_001172746.3:c.1458T>C | NP_001166217.1:p.Asn486= | |
| NM_032985.6:c.1512T>C | NP_116780.1:p.Asn504= | |
| NM_032986.5:c.1512T>C | NP_116781.1:p.Asn504= |