gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60953842 (MID)
Genomes Max Group AF
0.60507694 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7215003A>G , CM000679.2:g.7215003A>G | GRCh38 |
| NC_000017.10:g.7118322A>G , CM000679.1:g.7118322A>G | GRCh37 |
| NC_000017.9:g.7059046A>G | NCBI36 |
| NG_007975.1:g.170A>G | |
| NG_008391.2:g.10048T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302955.11:c.30+2115T>C | ENSP00000307471.6:n.30+2115T>C | |
| ENST00000399506.9:c.30+2115T>C MANE Select | ENSP00000382425.2:n.30+2115T>C | |
| ENST00000399510.8:c.159+3238T>C | ENSP00000382428.3:n.159+3238T>C | |
| ENST00000447163.6:c.30+2115T>C | ENSP00000388122.2:n.30+2115T>C | |
| ENST00000491753.2:c.159+3238T>C | ENSP00000467897.2:n.159+3238T>C | |
| ENST00000647975.1:c.30+2115T>C | ENSP00000497912.1:n.30+2115T>C | |
| ENST00000648172.8:c.159+3238T>C | ENSP00000497806.3:n.159+3238T>C | |
| ENST00000648707.1:n.65+3238T>C | ||
| ENST00000302955.10:c.30+2115T>C | ENSP00000307471.6:n.30+2115T>C | |
| ENST00000399506.6:c.30+2115T>C | ENSP00000382425.2:n.30+2115T>C | |
| ENST00000399510.6:c.159+3238T>C | ENSP00000382428.2:n.159+3238T>C | |
| ENST00000447163.5:c.30+2115T>C | ENSP00000388122.1:n.30+2115T>C | |
| ENST00000485100.5:c.30+2115T>C | ENSP00000460625.1:n.30+2115T>C | |
| NM_001128827.1:c.30+2115T>C | NP_001122299.1:n.30+2115T>C | |
| NM_001365.3:c.159+3238T>C | NP_001356.1:n.159+3238T>C | |
| XM_005256489.2:c.159+3238T>C | XP_005256546.1:n.159+3238T>C | |
| XM_005256491.1:c.30+2115T>C | XP_005256548.1:n.30+2115T>C | |
| XM_005256492.1:c.30+2115T>C | XP_005256549.1:n.30+2115T>C | |
| XM_011523698.1:c.159+3238T>C | XP_011522000.1:n.159+3238T>C | |
| XM_011523699.1:c.159+3238T>C | XP_011522001.1:n.159+3238T>C | |
| XR_243545.2:n.1158+3238T>C | ||
| XR_934005.1:n.1158+3238T>C | ||
| NM_001128827.2:c.30+2115T>C | NP_001122299.1:n.30+2115T>C | |
| NM_001321074.1:c.159+3238T>C | NP_001308003.1:n.159+3238T>C | |
| NM_001321075.1:c.30+2115T>C | NP_001308004.1:n.30+2115T>C | |
| NM_001365.4:c.159+3238T>C | NP_001356.1:n.159+3238T>C | |
| NR_135527.1:n.1360+3238T>C | ||
| XM_011523699.2:c.159+3238T>C | XP_011522001.1:n.159+3238T>C | |
| XM_017024288.2:c.30+2115T>C | XP_016879777.1:n.30+2115T>C | |
| XM_017024289.2:c.30+2115T>C | XP_016879778.1:n.30+2115T>C | |
| XR_934005.2:n.1152+3238T>C | ||
| NM_001128827.3:c.30+2115T>C | NP_001122299.1:n.30+2115T>C | |
| NM_001321075.3:c.30+2115T>C MANE Select | NP_001308004.1:n.30+2115T>C | |
| NM_001128827.4:c.30+2115T>C | NP_001122299.1:n.30+2115T>C |