gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27204904 (AFR)
Genomes Max Group AF
0.27204904 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102196915T>C , CM000675.2:g.102196915T>C | GRCh38 |
| NC_000013.10:g.102849265T>C , CM000675.1:g.102849265T>C | GRCh37 |
| NC_000013.9:g.101647266T>C | NCBI36 |
| NG_008317.1:g.209860A>G | |
| NG_008317.2:g.209860A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376131.9:c.208+204556A>G | ENSP00000365301.3:n.208+204556A>G | |
| ENST00000418923.3:c.91+204556A>G | ENSP00000516414.1:n.91+204556A>G | |
| ENST00000706491.1:c.208+204556A>G | ENSP00000516413.1:n.208+204556A>G | |
| ENST00000706492.1:c.*12+196843A>G | ENSP00000516415.1:n.*12+196843A>G | |
| ENST00000706493.1:c.*107+169530A>G | ENSP00000516416.1:n.*107+169530A>G | |
| ENST00000706494.1:c.-60+169530A>G | ENSP00000516417.1:n.-60+169530A>G | |
| ENST00000376131.8:c.208+204556A>G | ENSP00000365301.3:n.208+204556A>G | |
| NM_175929.2:c.208+204556A>G | NP_787125.1:n.208+204556A>G | |
| XM_011521053.1:c.13+23782A>G | XP_011519355.1:n.13+23782A>G | |
| NM_001321931.1:c.-300-3552A>G | NP_001308860.1:n.-300-3552A>G | |
| NM_001321932.1:c.-323-3552A>G | NP_001308861.1:n.-323-3552A>G | |
| NM_001321933.1:c.13+23782A>G | NP_001308862.1:n.13+23782A>G | |
| NM_001321934.1:c.-60+113556A>G | NP_001308863.1:n.-60+113556A>G | |
| NM_001321935.1:c.-60+120721A>G | NP_001308864.1:n.-60+120721A>G | |
| NM_001321936.1:c.-323-3552A>G | NP_001308865.1:n.-323-3552A>G | |
| NM_001321937.1:c.208+204556A>G | NP_001308866.1:n.208+204556A>G | |
| NM_001321938.1:c.13+23782A>G | NP_001308867.1:n.13+23782A>G | |
| NM_001321939.1:c.208+204556A>G | NP_001308868.1:n.208+204556A>G | |
| NM_001321940.1:c.13+23782A>G | NP_001308869.1:n.13+23782A>G | |
| NM_001321941.1:c.7+97059A>G | NP_001308870.1:n.7+97059A>G | |
| NM_001321942.1:c.-60+196843A>G | NP_001308871.1:n.-60+196843A>G | |
| NM_001321943.1:c.-60+8952A>G | NP_001308872.1:n.-60+8952A>G | |
| NM_001321944.1:c.-323-3552A>G | NP_001308873.1:n.-323-3552A>G | |
| NM_001321945.1:c.91+204556A>G | NP_001308874.1:n.91+204556A>G | |
| NM_001321946.1:c.-60+169530A>G | NP_001308875.1:n.-60+169530A>G | |
| NM_001321947.1:c.52+204556A>G | NP_001308876.1:n.52+204556A>G | |
| NM_001321948.1:c.91+204556A>G | NP_001308877.1:n.91+204556A>G | |
| NM_001321949.1:c.-60+169530A>G | NP_001308878.1:n.-60+169530A>G | |
| NM_001321938.2:c.13+23782A>G | NP_001308867.1:n.13+23782A>G | |
| NM_001321945.2:c.91+204556A>G | NP_001308874.1:n.91+204556A>G | |
| NM_001321946.2:c.-60+169530A>G | NP_001308875.1:n.-60+169530A>G | |
| NM_001321947.2:c.52+204556A>G | NP_001308876.1:n.52+204556A>G | |
| NM_001321948.2:c.91+204556A>G | NP_001308877.1:n.91+204556A>G | |
| NM_001321937.2:c.208+204556A>G | NP_001308866.1:n.208+204556A>G | |
| NM_001321939.2:c.208+204556A>G | NP_001308868.1:n.208+204556A>G | |
| NM_001321941.2:c.7+97059A>G | NP_001308870.1:n.7+97059A>G | |
| NM_001379342.1:c.91+204556A>G | NP_001366271.1:n.91+204556A>G | |
| NM_175929.3:c.208+204556A>G | NP_787125.1:n.208+204556A>G |