gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19544702 (AFR)
Genomes Max Group AF
0.19543242 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219069626G>T , CM000664.2:g.219069626G>T | GRCh38 |
| NC_000002.11:g.219934348G>T , CM000664.1:g.219934348G>T | GRCh37 |
| NC_000002.10:g.219642592G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698174.1:c.*2393C>A | ENSP00000513594.1:n.*2393C>A | |
| ENST00000698202.1:c.*2068C>A | ENSP00000513605.1:n.*2068C>A | |
| ENST00000698203.1:c.*2068C>A | ENSP00000513606.1:n.*2068C>A | |
| ENST00000698210.1:n.1114C>A | ||
| ENST00000356853.10:c.*6755C>A MANE Select | ENSP00000349313.5:n.*6755C>A | |
| NM_001377498.1:c.*6755C>A | NP_001364427.1:n.*6755C>A | |
| NM_001377499.1:c.*6755C>A | NP_001364428.1:n.*6755C>A | |
| NM_024782.3:c.*6755C>A MANE Select | NP_079058.1:n.*6755C>A | |
| NR_165304.1:n.7833C>A |