Linked Data
dbSNP Id:
rs1227043048
gnomAD v2:
11-121434476-A-G
gnomAD v3:
11-121563767-A-G
gnomAD v4:
11-121563767-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121563767A>G , CM000673.2:g.121563767A>G | GRCh38 |
| NC_000011.9:g.121434476A>G , CM000673.1:g.121434476A>G | GRCh37 |
| NC_000011.8:g.120939686A>G | NCBI36 |
| NG_023313.1:g.116516A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.3050-3173A>G MANE Select | ENSP00000260197.6:n.3050-3173A>G | |
| ENST00000260197.11:c.3050-3173A>G | ENSP00000260197.6:n.3050-3173A>G | |
| NM_003105.5:c.3050-3173A>G | NP_003096.1:n.3050-3173A>G | |
| XM_011542963.1:c.3050-3173A>G | XP_011541265.1:n.3050-3173A>G | |
| XM_011542964.1:c.3050-3173A>G | XP_011541266.1:n.3050-3173A>G | |
| XM_011542965.1:c.1511-3173A>G | XP_011541267.1:n.1511-3173A>G | |
| XM_011542966.1:c.410-3173A>G | XP_011541268.1:n.410-3173A>G | |
| XM_011542963.3:c.3050-3173A>G | XP_011541265.1:n.3050-3173A>G | |
| XM_011542965.3:c.1511-3173A>G | XP_011541267.1:n.1511-3173A>G | |
| XM_017018169.2:c.2738-3173A>G | XP_016873658.1:n.2738-3173A>G | |
| XM_017018170.2:c.2525-3173A>G | XP_016873659.1:n.2525-3173A>G | |
| XM_017018171.1:c.3050-3173A>G | XP_016873660.1:n.3050-3173A>G | |
| XM_017018172.2:c.410-3173A>G | XP_016873661.1:n.410-3173A>G | |
| NM_003105.6:c.3050-3173A>G MANE Select | NP_003096.2:n.3050-3173A>G |