gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76725889 (EAS)
Genomes Max Group AF
0.76725889 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36925038T>C , CM000684.2:g.36925038T>C | GRCh38 |
| NC_000022.10:g.37321080T>C , CM000684.1:g.37321080T>C | GRCh37 |
| NC_000022.9:g.35651026T>C | NCBI36 |
| NG_008040.1:g.16406T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403662.8:c.201-949T>C MANE Select | ENSP00000384053.3:n.201-949T>C | |
| ENST00000262825.9:c.201-949T>C | ENSP00000262825.6:n.201-949T>C | |
| ENST00000403662.7:c.201-949T>C | ENSP00000384053.3:n.201-949T>C | |
| ENST00000406230.5:c.201-949T>C | ENSP00000385271.1:n.201-949T>C | |
| ENST00000421539.1:c.-40-949T>C | ENSP00000393585.1:n.-40-949T>C | |
| NM_000395.2:c.201-949T>C | NP_000386.1:n.201-949T>C | |
| XM_005261340.2:c.201-949T>C | XP_005261397.1:n.201-949T>C | |
| XM_011529903.1:c.201-949T>C | XP_011528205.1:n.201-949T>C | |
| XM_011529904.1:c.201-949T>C | XP_011528206.1:n.201-949T>C | |
| XM_011529905.1:c.201-949T>C | XP_011528207.1:n.201-949T>C | |
| XR_938230.1:n.230+712A>G | ||
| XM_005261340.3:c.201-949T>C | XP_005261397.1:n.201-949T>C | |
| XM_011529903.2:c.201-949T>C | XP_011528205.1:n.201-949T>C | |
| XM_011529904.2:c.201-949T>C | XP_011528206.1:n.201-949T>C | |
| XM_011529905.2:c.201-949T>C | XP_011528207.1:n.201-949T>C | |
| NM_000395.3:c.201-949T>C MANE Select | NP_000386.1:n.201-949T>C |