Linked Data
dbSNP Id:
rs1300802167
gnomAD v2:
11-121481349-C-G
gnomAD v3:
11-121610640-C-G
gnomAD v4:
11-121610640-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121610640C>G , CM000673.2:g.121610640C>G | GRCh38 |
| NC_000011.9:g.121481349C>G , CM000673.1:g.121481349C>G | GRCh37 |
| NC_000011.8:g.120986559C>G | NCBI36 |
| NG_023313.1:g.163389C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.5240-436C>G MANE Select | ENSP00000260197.6:n.5240-436C>G | |
| ENST00000260197.11:c.5240-436C>G | ENSP00000260197.6:n.5240-436C>G | |
| ENST00000525532.5:c.2072-436C>G | ENSP00000434634.1:n.2072-436C>G | |
| ENST00000527934.1:c.1085-436C>G | ENSP00000435405.1:n.1085-436C>G | |
| ENST00000528339.5:n.2441C>G | ||
| ENST00000532694.5:c.1778-436C>G | ENSP00000432131.1:n.1778-436C>G | |
| ENST00000534286.5:c.1970-436C>G | ENSP00000436447.1:n.1970-436C>G | |
| NM_003105.5:c.5240-436C>G | NP_003096.1:n.5240-436C>G | |
| XM_011542963.1:c.5126-436C>G | XP_011541265.1:n.5126-436C>G | |
| XM_011542964.1:c.*48-436C>G | XP_011541266.1:n.*48-436C>G | |
| XM_011542965.1:c.3701-436C>G | XP_011541267.1:n.3701-436C>G | |
| XM_011542966.1:c.2600-436C>G | XP_011541268.1:n.2600-436C>G | |
| XM_011542967.1:c.2072-436C>G | XP_011541269.1:n.2072-436C>G | |
| XM_011542963.3:c.5126-436C>G | XP_011541265.1:n.5126-436C>G | |
| XM_011542965.3:c.3701-436C>G | XP_011541267.1:n.3701-436C>G | |
| XM_011542967.3:c.2072-436C>G | XP_011541269.1:n.2072-436C>G | |
| XM_017018169.2:c.4928-436C>G | XP_016873658.1:n.4928-436C>G | |
| XM_017018170.2:c.4715-436C>G | XP_016873659.1:n.4715-436C>G | |
| XM_017018171.1:c.*1156C>G | XP_016873660.1:n.*1156C>G | |
| XM_017018172.2:c.2600-436C>G | XP_016873661.1:n.2600-436C>G | |
| NM_003105.6:c.5240-436C>G MANE Select | NP_003096.2:n.5240-436C>G |