gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59568245 (EAS)
Genomes Max Group AF
0.59568245 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63258928A>C , CM000680.2:g.63258928A>C | GRCh38 |
| NC_000018.9:g.60926161A>C , CM000680.1:g.60926161A>C | GRCh37 |
| NC_000018.8:g.59077141A>C | NCBI36 |
| NG_009361.1:g.65453T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333681.5:c.585+59154T>G MANE Select | ENSP00000329623.3:n.585+59154T>G | |
| ENST00000677227.1:c.913+21959T>G | ENSP00000504566.1:n.913+21959T>G | |
| ENST00000678134.1:c.789+42734T>G | ENSP00000503628.1:n.789+42734T>G | |
| ENST00000678349.1:c.1137+58602T>G | ENSP00000504190.1:n.1137+58602T>G | |
| ENST00000333681.4:c.585+59154T>G | ENSP00000329623.3:n.585+59154T>G | |
| ENST00000398117.1:c.585+59154T>G | ENSP00000381185.1:n.585+59154T>G | |
| NM_000633.2:c.585+59154T>G | NP_000624.2:n.585+59154T>G | |
| XR_935246.1:n.2025+21959T>G | ||
| XR_935247.1:n.2905T>G | ||
| XR_935248.1:n.1804+21959T>G | ||
| XR_935248.3:n.2306+21959T>G | ||
| NM_000633.3:c.585+59154T>G MANE Select | NP_000624.2:n.585+59154T>G |