Linked Data
dbSNP Id:
rs11848785
gnomAD v2:
14-72057355-G-A
gnomAD v3:
14-71590638-G-A
gnomAD v4:
14-71590638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.71590638G>A , CM000676.2:g.71590638G>A | GRCh38 |
| NC_000014.8:g.72057355G>A , CM000676.1:g.72057355G>A | GRCh37 |
| NC_000014.7:g.71127108G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381232.8:c.1498+1268G>A MANE Select | ENSP00000370630.3:n.1498+1268G>A | |
| ENST00000358550.6:c.1498+1268G>A | ENSP00000351352.2:n.1498+1268G>A | |
| ENST00000381232.7:c.1498+1268G>A | ENSP00000370630.3:n.1498+1268G>A | |
| ENST00000555818.5:c.1498+1268G>A | ENSP00000450832.1:n.1498+1268G>A | |
| NM_001284245.1:c.1498+1268G>A | NP_001271174.1:n.1498+1268G>A | |
| NM_001284246.1:c.1498+1268G>A | NP_001271175.1:n.1498+1268G>A | |
| NM_001284247.1:c.1498+1268G>A | NP_001271176.1:n.1498+1268G>A | |
| NM_015556.2:c.1498+1268G>A | NP_056371.1:n.1498+1268G>A | |
| XM_005267516.3:c.1498+1268G>A | XP_005267573.1:n.1498+1268G>A | |
| XM_005267519.1:c.1498+1268G>A | XP_005267576.1:n.1498+1268G>A | |
| XM_006720109.2:c.1498+1268G>A | XP_006720172.1:n.1498+1268G>A | |
| XM_006720111.1:c.1498+1268G>A | XP_006720174.1:n.1498+1268G>A | |
| XM_006720112.1:c.1498+1268G>A | XP_006720175.1:n.1498+1268G>A | |
| XM_011536630.1:c.1498+1268G>A | XP_011534932.1:n.1498+1268G>A | |
| XM_011536631.1:c.1498+1268G>A | XP_011534933.1:n.1498+1268G>A | |
| XM_011536632.1:c.1498+1268G>A | XP_011534934.1:n.1498+1268G>A | |
| XM_011536633.1:c.1498+1268G>A | XP_011534935.1:n.1498+1268G>A | |
| XM_011536634.1:c.1498+1268G>A | XP_011534936.1:n.1498+1268G>A | |
| XM_011536635.1:c.1498+1268G>A | XP_011534937.1:n.1498+1268G>A | |
| XM_011536636.1:c.1498+1268G>A | XP_011534938.1:n.1498+1268G>A | |
| XM_011536637.1:c.1498+1268G>A | XP_011534939.1:n.1498+1268G>A | |
| NM_001284245.2:c.1498+1268G>A | NP_001271174.1:n.1498+1268G>A | |
| NM_001284247.2:c.1498+1268G>A | NP_001271176.1:n.1498+1268G>A | |
| NM_001354285.1:c.1498+1268G>A | NP_001341214.1:n.1498+1268G>A | |
| NM_001354286.1:c.1498+1268G>A | NP_001341215.1:n.1498+1268G>A | |
| NM_001354287.1:c.1498+1268G>A | NP_001341216.1:n.1498+1268G>A | |
| NM_001354288.1:c.1498+1268G>A | NP_001341217.1:n.1498+1268G>A | |
| NM_001354289.1:c.17-28119G>A | NP_001341218.1:n.17-28119G>A | |
| NM_015556.3:c.1498+1268G>A | NP_056371.1:n.1498+1268G>A | |
| XM_005267516.4:c.1498+1268G>A | XP_005267573.1:n.1498+1268G>A | |
| XM_011536635.3:c.1498+1268G>A | XP_011534937.1:n.1498+1268G>A | |
| XM_017021163.2:c.1498+1268G>A | XP_016876652.1:n.1498+1268G>A | |
| XM_017021177.1:c.1498+1268G>A | XP_016876666.1:n.1498+1268G>A | |
| XM_017021178.1:c.1498+1268G>A | XP_016876667.1:n.1498+1268G>A | |
| XM_017021179.1:c.1498+1268G>A | XP_016876668.1:n.1498+1268G>A | |
| XM_017021180.1:c.1498+1268G>A | XP_016876669.1:n.1498+1268G>A | |
| XM_017021185.1:c.1498+1268G>A | XP_016876674.1:n.1498+1268G>A | |
| XM_017021197.1:c.17-28119G>A | XP_016876686.1:n.17-28119G>A | |
| XM_017021198.1:c.17-28119G>A | XP_016876687.1:n.17-28119G>A | |
| XM_017021199.1:c.17-28119G>A | XP_016876688.1:n.17-28119G>A | |
| XM_024449529.1:c.1498+1268G>A | XP_024305297.1:n.1498+1268G>A | |
| XM_024449530.1:c.1498+1268G>A | XP_024305298.1:n.1498+1268G>A | |
| XM_024449531.1:c.1498+1268G>A | XP_024305299.1:n.1498+1268G>A | |
| XM_024449532.1:c.1498+1268G>A | XP_024305300.1:n.1498+1268G>A | |
| XM_024449533.1:c.1498+1268G>A | XP_024305301.1:n.1498+1268G>A | |
| XM_024449534.1:c.1498+1268G>A | XP_024305302.1:n.1498+1268G>A | |
| XM_024449535.1:c.1498+1268G>A | XP_024305303.1:n.1498+1268G>A | |
| XM_024449536.1:c.17-28119G>A | XP_024305304.1:n.17-28119G>A | |
| NM_001284245.3:c.1498+1268G>A | NP_001271174.1:n.1498+1268G>A | |
| NM_001284246.2:c.1498+1268G>A | NP_001271175.1:n.1498+1268G>A | |
| NM_001284247.3:c.1498+1268G>A | NP_001271176.1:n.1498+1268G>A | |
| NM_001354285.2:c.1498+1268G>A | NP_001341214.1:n.1498+1268G>A | |
| NM_001354286.2:c.1498+1268G>A | NP_001341215.1:n.1498+1268G>A | |
| NM_001354287.2:c.1498+1268G>A | NP_001341216.1:n.1498+1268G>A | |
| NM_001354288.2:c.1498+1268G>A | NP_001341217.1:n.1498+1268G>A | |
| NM_001354289.2:c.17-28119G>A | NP_001341218.1:n.17-28119G>A | |
| NM_015556.4:c.1498+1268G>A | NP_056371.1:n.1498+1268G>A | |
| NM_001386936.1:c.1498+1268G>A MANE Select | NP_001373865.1:n.1498+1268G>A |