Linked Data
dbSNP Id:
rs1175922535
gnomAD v2:
18-61472372-T-G
gnomAD v3:
18-63805138-T-G
gnomAD v4:
18-63805138-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63805138T>G , CM000680.2:g.63805138T>G | GRCh38 |
| NC_000018.9:g.61472372T>G , CM000680.1:g.61472372T>G | GRCh37 |
| NC_000018.8:g.59623352T>G | NCBI36 |
| NG_034150.1:g.57092T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398019.7:c.*503T>G MANE Select | ENSP00000381101.2:n.*503T>G | |
| ENST00000336429.6:c.*503T>G | ENSP00000337212.2:n.*503T>G | |
| ENST00000398019.6:c.*503T>G | ENSP00000381101.2:n.*503T>G | |
| ENST00000540675.5:c.*503T>G | ENSP00000444572.1:n.*503T>G | |
| ENST00000546027.5:c.*503T>G | ENSP00000444861.1:n.*503T>G | |
| NM_001040147.2:c.*503T>G | NP_001035237.1:n.*503T>G | |
| NM_001261830.1:c.*503T>G | NP_001248759.1:n.*503T>G | |
| NM_001261831.1:c.*503T>G | NP_001248760.1:n.*503T>G | |
| NM_003784.3:c.*503T>G | NP_003775.1:n.*503T>G | |
| XM_006722562.1:c.*503T>G | XP_006722625.1:n.*503T>G | |
| XM_011526236.1:c.*503T>G | XP_011524538.1:n.*503T>G | |
| XM_024451278.1:c.*503T>G | XP_024307046.1:n.*503T>G | |
| NM_003784.4:c.*503T>G MANE Select | NP_003775.1:n.*503T>G | |
| NM_001040147.3:c.*503T>G | NP_001035237.1:n.*503T>G | |
| NM_001261830.2:c.*503T>G | NP_001248759.1:n.*503T>G | |
| NM_001261831.2:c.*503T>G | NP_001248760.1:n.*503T>G |