Linked Data
ClinVar Variation Id:
353913
ClinVar RCV Id:
RCV000260936
dbSNP Id:
rs829257
gnomAD v2:
5-58265366-G-A
gnomAD v3:
5-58969539-G-A
gnomAD v4:
5-58969539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.58969539G>A , CM000667.2:g.58969539G>A | GRCh38 |
| NC_000005.9:g.58265366G>A , CM000667.1:g.58265366G>A | GRCh37 |
| NC_000005.8:g.58301123G>A | NCBI36 |
| NG_027957.1:g.1523560C>T | |
| NG_027957.2:g.1559791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.*5125C>T | ENSP00000424852.1:n.*5125C>T | |
| ENST00000340635.11:c.*5125C>T MANE Select | ENSP00000345502.6:n.*5125C>T | |
| ENST00000340635.10:c.*5125C>T | ENSP00000345502.6:n.*5125C>T | |
| ENST00000546160.5:c.*5125C>T | ENSP00000442734.2:n.*5125C>T | |
| NM_001104631.1:c.*5125C>T | NP_001098101.1:n.*5125C>T | |
| NM_001165899.1:c.*5125C>T | NP_001159371.1:n.*5125C>T | |
| NM_001197218.1:c.*5125C>T | NP_001184147.1:n.*5125C>T | |
| NM_001197219.1:c.*5125C>T | NP_001184148.1:n.*5125C>T | |
| NM_001197220.1:c.*5125C>T | NP_001184149.1:n.*5125C>T | |
| NM_001197221.1:c.*5125C>T | NP_001184150.1:n.*5125C>T | |
| NM_001197222.1:c.*5125C>T | NP_001184151.1:n.*5125C>T | |
| NM_001197223.1:c.*5125C>T | NP_001184152.1:n.*5125C>T | |
| NM_006203.4:c.*5125C>T | NP_006194.2:n.*5125C>T | |
| XM_005248537.2:c.*5125C>T | XP_005248594.1:n.*5125C>T | |
| XM_005248538.3:c.*5125C>T | XP_005248595.1:n.*5125C>T | |
| XM_011543469.1:c.*5125C>T | XP_011541771.1:n.*5125C>T | |
| XM_011543470.1:c.*5125C>T | XP_011541772.1:n.*5125C>T | |
| XM_011543471.1:c.*5125C>T | XP_011541773.1:n.*5125C>T | |
| XM_011543472.1:c.*5125C>T | XP_011541774.1:n.*5125C>T | |
| XM_011543473.1:c.*5125C>T | XP_011541775.1:n.*5125C>T | |
| XM_011543474.1:c.*5125C>T | XP_011541776.1:n.*5125C>T | |
| XM_011543475.1:c.*5125C>T | XP_011541777.1:n.*5125C>T | |
| XM_011543476.1:c.*5125C>T | XP_011541778.1:n.*5125C>T | |
| XM_011543477.1:c.*5125C>T | XP_011541779.1:n.*5125C>T | |
| XM_011543478.1:c.*5125C>T | XP_011541780.1:n.*5125C>T | |
| XM_011543479.1:c.*5125C>T | XP_011541781.1:n.*5125C>T | |
| NM_001349241.1:c.*5125C>T | NP_001336170.1:n.*5125C>T | |
| NM_001349242.1:c.*5125C>T | NP_001336171.1:n.*5125C>T | |
| NM_001349243.1:c.*5125C>T | NP_001336172.1:n.*5125C>T | |
| NM_001364599.1:c.*5125C>T | NP_001351528.1:n.*5125C>T | |
| NM_001364603.1:c.*5125C>T | NP_001351532.1:n.*5125C>T | |
| NM_001364604.1:c.*5125C>T | NP_001351533.1:n.*5125C>T | |
| XM_011543470.2:c.*5125C>T | XP_011541772.1:n.*5125C>T | |
| XM_011543471.2:c.*5125C>T | XP_011541773.1:n.*5125C>T | |
| XM_017009565.1:c.*5125C>T | XP_016865054.1:n.*5125C>T | |
| XM_017009566.1:c.*5125C>T | XP_016865055.1:n.*5125C>T | |
| XM_017009567.1:c.*5125C>T | XP_016865056.1:n.*5125C>T | |
| XM_024446110.1:c.*5125C>T | XP_024301878.1:n.*5125C>T | |
| XM_024446112.1:c.*5125C>T | XP_024301880.1:n.*5125C>T | |
| NM_001104631.2:c.*5125C>T MANE Select | NP_001098101.1:n.*5125C>T | |
| NM_001165899.2:c.*5125C>T | NP_001159371.1:n.*5125C>T | |
| NM_001197218.2:c.*5125C>T | NP_001184147.1:n.*5125C>T | |
| NM_001197219.2:c.*5125C>T | NP_001184148.1:n.*5125C>T | |
| NM_001197220.2:c.*5125C>T | NP_001184149.1:n.*5125C>T | |
| NM_001197221.2:c.*5125C>T | NP_001184150.1:n.*5125C>T | |
| NM_001197222.2:c.*5125C>T | NP_001184151.1:n.*5125C>T | |
| NM_001197223.2:c.*5125C>T | NP_001184152.1:n.*5125C>T | |
| NM_001349241.2:c.*5125C>T | NP_001336170.1:n.*5125C>T | |
| NM_001349243.2:c.*5125C>T | NP_001336172.1:n.*5125C>T | |
| NM_001349242.2:c.*5125C>T | NP_001336171.1:n.*5125C>T | |
| NM_006203.5:c.*5125C>T | NP_006194.2:n.*5125C>T |