Linked Data
dbSNP Id:
rs1176508079
gnomAD v2:
4-57142949-G-T
gnomAD v3:
4-56276783-G-T
gnomAD v4:
4-56276783-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56276783G>T , CM000666.2:g.56276783G>T | GRCh38 |
| NC_000004.11:g.57142949G>T , CM000666.1:g.57142949G>T | GRCh37 |
| NC_000004.10:g.56837706G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646253.2:c.239+4291G>T | ENSP00000495373.2:n.239+4291G>T | |
| ENST00000629263.3:c.-174+4291G>T | ENSP00000486652.1:n.-174+4291G>T | |
| ENST00000682029.1:c.-17+4291G>T MANE Select | ENSP00000507165.1:n.-17+4291G>T | |
| ENST00000264229.11:c.-17+4291G>T | ENSP00000264229.6:n.-17+4291G>T | |
| ENST00000504228.6:c.-17+4291G>T | ENSP00000423366.1:n.-17+4291G>T | |
| ENST00000636006.1:c.-17+4291G>T | ENSP00000490902.1:n.-17+4291G>T | |
| ENST00000646253.1:c.239+4291G>T | ENSP00000495373.1:n.239+4291G>T | |
| ENST00000264229.10:c.-17+4291G>T | ENSP00000264229.6:n.-17+4291G>T | |
| ENST00000503618.1:n.382+4291G>T | ||
| ENST00000504228.5:c.-17+4291G>T | ENSP00000423366.1:n.-17+4291G>T | |
| ENST00000541073.5:c.-60+4291G>T | ENSP00000444006.1:n.-60+4291G>T | |
| ENST00000629263.2:c.-174+4291G>T | ENSP00000486652.1:n.-174+4291G>T | |
| NM_020722.1:c.-17+4291G>T | NP_065773.1:n.-17+4291G>T | |
| XM_005265752.2:c.-17+4291G>T | XP_005265809.1:n.-17+4291G>T | |
| XM_011534397.1:c.-17+4291G>T | XP_011532699.1:n.-17+4291G>T | |
| XM_011534398.1:c.-39+4291G>T | XP_011532700.1:n.-39+4291G>T | |
| XM_011534399.1:c.-55+4291G>T | XP_011532701.1:n.-55+4291G>T | |
| XM_011534397.3:c.-17+4291G>T | XP_011532699.1:n.-17+4291G>T | |
| XM_017008473.1:c.-39+4291G>T | XP_016863962.1:n.-39+4291G>T | |
| XM_017008474.1:c.-55+4291G>T | XP_016863963.1:n.-55+4291G>T | |
| XM_024454158.1:c.-17+4291G>T | XP_024309926.1:n.-17+4291G>T | |
| XM_024454159.1:c.-17+4291G>T | XP_024309927.1:n.-17+4291G>T | |
| NM_001393381.1:c.-17+4291G>T MANE Select | NP_001380310.1:n.-17+4291G>T | |
| NM_001393382.1:c.-17+4291G>T | NP_001380311.1:n.-17+4291G>T | |
| NM_001393383.1:c.-55+4291G>T | NP_001380312.1:n.-55+4291G>T | |
| NM_001393384.1:c.-55+4291G>T | NP_001380313.1:n.-55+4291G>T | |
| NM_001393385.1:c.-55+4291G>T | NP_001380314.1:n.-55+4291G>T | |
| NM_020722.2:c.-17+4291G>T | NP_065773.1:n.-17+4291G>T |