gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121555333G>T , CM000673.2:g.121555333G>T | GRCh38 |
| NC_000011.9:g.121426042G>T , CM000673.1:g.121426042G>T | GRCh37 |
| NC_000011.8:g.120931252G>T | NCBI36 |
| NG_023313.1:g.108082G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.2571+15G>T MANE Select | ENSP00000260197.6:n.2571+15G>T | |
| ENST00000260197.11:c.2571+15G>T | ENSP00000260197.6:n.2571+15G>T | |
| ENST00000529445.1:n.277+15G>T | ||
| NM_003105.5:c.2571+15G>T | NP_003096.1:n.2571+15G>T | |
| XM_011542963.1:c.2571+15G>T | XP_011541265.1:n.2571+15G>T | |
| XM_011542964.1:c.2571+15G>T | XP_011541266.1:n.2571+15G>T | |
| XM_011542965.1:c.1032+15G>T | XP_011541267.1:n.1032+15G>T | |
| XM_011542966.1:c.23+15G>T | XP_011541268.1:n.23+15G>T | |
| XM_011542963.3:c.2571+15G>T | XP_011541265.1:n.2571+15G>T | |
| XM_011542965.3:c.1032+15G>T | XP_011541267.1:n.1032+15G>T | |
| XM_017018169.2:c.2259+15G>T | XP_016873658.1:n.2259+15G>T | |
| XM_017018170.2:c.2046+15G>T | XP_016873659.1:n.2046+15G>T | |
| XM_017018171.1:c.2571+15G>T | XP_016873660.1:n.2571+15G>T | |
| XM_017018172.2:c.23+15G>T | XP_016873661.1:n.23+15G>T | |
| NM_003105.6:c.2571+15G>T MANE Select | NP_003096.2:n.2571+15G>T |