Linked Data
dbSNP Id:
rs720099
gnomAD v2:
11-121433793-T-C
gnomAD v3:
11-121563084-T-C
gnomAD v4:
11-121563084-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121563084T>C , CM000673.2:g.121563084T>C | GRCh38 |
| NC_000011.9:g.121433793T>C , CM000673.1:g.121433793T>C | GRCh37 |
| NC_000011.8:g.120939003T>C | NCBI36 |
| NG_023313.1:g.115833T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.3049+3427T>C MANE Select | ENSP00000260197.6:n.3049+3427T>C | |
| ENST00000260197.11:c.3049+3427T>C | ENSP00000260197.6:n.3049+3427T>C | |
| NM_003105.5:c.3049+3427T>C | NP_003096.1:n.3049+3427T>C | |
| XM_011542963.1:c.3049+3427T>C | XP_011541265.1:n.3049+3427T>C | |
| XM_011542964.1:c.3049+3427T>C | XP_011541266.1:n.3049+3427T>C | |
| XM_011542965.1:c.1510+3427T>C | XP_011541267.1:n.1510+3427T>C | |
| XM_011542966.1:c.409+3427T>C | XP_011541268.1:n.409+3427T>C | |
| XM_011542963.3:c.3049+3427T>C | XP_011541265.1:n.3049+3427T>C | |
| XM_011542965.3:c.1510+3427T>C | XP_011541267.1:n.1510+3427T>C | |
| XM_017018169.2:c.2737+3427T>C | XP_016873658.1:n.2737+3427T>C | |
| XM_017018170.2:c.2524+3427T>C | XP_016873659.1:n.2524+3427T>C | |
| XM_017018171.1:c.3049+3427T>C | XP_016873660.1:n.3049+3427T>C | |
| XM_017018172.2:c.409+3427T>C | XP_016873661.1:n.409+3427T>C | |
| NM_003105.6:c.3049+3427T>C MANE Select | NP_003096.2:n.3049+3427T>C |