Linked Data
dbSNP Id:
rs7423615
gnomAD v2:
2-231116874-C-T
gnomAD v3:
2-230252159-C-T
gnomAD v4:
2-230252159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230252159C>T , CM000664.2:g.230252159C>T | GRCh38 |
| NC_000002.11:g.231116874C>T , CM000664.1:g.231116874C>T | GRCh37 |
| NC_000002.10:g.230825118C>T | NCBI36 |
| NG_051286.1:g.54236C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392045.8:c.1057+1098C>T MANE Select | ENSP00000375899.3:n.1057+1098C>T | |
| ENST00000343805.10:c.979+1098C>T | ENSP00000342096.6:n.979+1098C>T | |
| ENST00000392045.7:c.1057+1098C>T | ENSP00000375899.3:n.1057+1098C>T | |
| ENST00000417495.7:c.817+3191C>T | ENSP00000393618.3:n.817+3191C>T | |
| ENST00000420434.7:c.1057+1098C>T | ENSP00000398210.3:n.1057+1098C>T | |
| NM_001278451.1:c.1057+1098C>T | NP_001265380.1:n.1057+1098C>T | |
| NM_001278452.1:c.979+1098C>T | NP_001265381.1:n.979+1098C>T | |
| NM_001278453.1:c.817+3191C>T | NP_001265382.1:n.817+3191C>T | |
| NM_007237.4:c.1057+1098C>T | NP_009168.4:n.1057+1098C>T | |
| XM_005246252.2:c.1048+1098C>T | XP_005246309.1:n.1048+1098C>T | |
| XM_005246253.2:c.979+1098C>T | XP_005246310.1:n.979+1098C>T | |
| XM_005246254.2:c.1057+1098C>T | XP_005246311.1:n.1057+1098C>T | |
| XM_005246255.2:c.907+1098C>T | XP_005246312.1:n.907+1098C>T | |
| XM_005246256.2:c.976+3191C>T | XP_005246313.1:n.976+3191C>T | |
| XM_006712223.2:c.1057+1098C>T | XP_006712286.1:n.1057+1098C>T | |
| XM_011510515.1:c.1057+1098C>T | XP_011508817.1:n.1057+1098C>T | |
| XM_011510516.1:c.1057+1098C>T | XP_011508818.1:n.1057+1098C>T | |
| XM_011510517.1:c.997+1098C>T | XP_011508819.1:n.997+1098C>T | |
| XM_011510518.1:c.997+1098C>T | XP_011508820.1:n.997+1098C>T | |
| XM_011510519.1:c.977-1157C>T | XP_011508821.1:n.977-1157C>T | |
| XM_011510520.1:c.970+1098C>T | XP_011508822.1:n.970+1098C>T | |
| XM_011510521.1:c.829+1098C>T | XP_011508823.1:n.829+1098C>T | |
| XM_011510522.1:c.820+1098C>T | XP_011508824.1:n.820+1098C>T | |
| XM_011510523.1:c.1057+1098C>T | XP_011508825.1:n.1057+1098C>T | |
| XR_922832.1:n.1136+1098C>T | ||
| XM_006712223.3:c.1057+1098C>T | XP_006712286.1:n.1057+1098C>T | |
| XM_011510517.3:c.997+1098C>T | XP_011508819.1:n.997+1098C>T | |
| XM_011510518.2:c.997+1098C>T | XP_011508820.1:n.997+1098C>T | |
| XM_017003239.1:c.1048+1098C>T | XP_016858728.1:n.1048+1098C>T | |
| XM_017003240.1:c.979+1098C>T | XP_016858729.1:n.979+1098C>T | |
| XM_017003241.1:c.977-1175C>T | XP_016858730.1:n.977-1175C>T | |
| XM_017003242.1:c.970+1098C>T | XP_016858731.1:n.970+1098C>T | |
| XM_017003243.1:c.1048+1098C>T | XP_016858732.1:n.1048+1098C>T | |
| XM_017003244.1:c.919+1098C>T | XP_016858733.1:n.919+1098C>T | |
| XM_017003245.1:c.898+1098C>T | XP_016858734.1:n.898+1098C>T | |
| XM_017003246.1:c.890-1157C>T | XP_016858735.1:n.890-1157C>T | |
| XM_017003247.1:c.970+1098C>T | XP_016858736.1:n.970+1098C>T | |
| XM_017003248.1:c.967+3191C>T | XP_016858737.1:n.967+3191C>T | |
| XM_017003249.1:c.898+3191C>T | XP_016858738.1:n.898+3191C>T | |
| XM_017003250.1:c.889+3191C>T | XP_016858739.1:n.889+3191C>T | |
| XM_017003251.2:c.838+3191C>T | XP_016858740.1:n.838+3191C>T | |
| XM_017003252.1:c.826+3191C>T | XP_016858741.1:n.826+3191C>T | |
| XM_017003253.1:c.298+1098C>T | XP_016858742.1:n.298+1098C>T | |
| XR_001738595.1:n.1136+1098C>T | ||
| XR_001738596.1:n.1136+1098C>T | ||
| NM_007237.5:c.1057+1098C>T MANE Select | NP_009168.4:n.1057+1098C>T | |
| NM_001278452.2:c.979+1098C>T | NP_001265381.1:n.979+1098C>T | |
| NM_001278453.2:c.817+3191C>T | NP_001265382.1:n.817+3191C>T | |
| NM_001278451.2:c.1057+1098C>T | NP_001265380.1:n.1057+1098C>T |