gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11268891C>G , CM000664.2:g.11268891C>G | GRCh38 |
| NC_000002.11:g.11409017C>G , CM000664.1:g.11409017C>G | GRCh37 |
| NC_000002.10:g.11326468C>G | NCBI36 |
| NG_029769.1:g.80695G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431087.2:c.183+17648G>C | ENSP00000395957.2:n.183+17648G>C | |
| ENST00000697752.1:c.324+17648G>C | ENSP00000513431.1:n.324+17648G>C | |
| ENST00000315872.11:c.324+17648G>C MANE Select | ENSP00000317985.6:n.324+17648G>C | |
| ENST00000261535.7:c.324+17648G>C | ENSP00000261535.3:n.324+17648G>C | |
| ENST00000315872.10:c.324+17648G>C | ENSP00000317985.6:n.324+17648G>C | |
| ENST00000431087.1:c.66+17648G>C | ENSP00000395957.1:n.66+17648G>C | |
| ENST00000462366.1:n.346+17648G>C | ||
| ENST00000616279.4:c.-1732+17648G>C | ENSP00000481789.1:n.-1732+17648G>C | |
| NM_004850.3:c.324+17648G>C | NP_004841.2:n.324+17648G>C | |
| XM_005246190.3:c.324+17648G>C | XP_005246247.1:n.324+17648G>C | |
| XM_011510417.1:c.66+17648G>C | XP_011508719.1:n.66+17648G>C | |
| NM_001321643.1:c.66+17648G>C | NP_001308572.1:n.66+17648G>C | |
| NM_004850.4:c.324+17648G>C | NP_004841.2:n.324+17648G>C | |
| XM_011510417.2:c.66+17648G>C | XP_011508719.1:n.66+17648G>C | |
| XM_017005378.2:c.324+17648G>C | XP_016860867.1:n.324+17648G>C | |
| XM_017005379.2:c.66+17648G>C | XP_016860868.1:n.66+17648G>C | |
| NM_004850.5:c.324+17648G>C MANE Select | NP_004841.2:n.324+17648G>C | |
| NM_001321643.2:c.66+17648G>C | NP_001308572.1:n.66+17648G>C |