Linked Data
dbSNP Id:
rs1415100289
gnomAD v2:
1-47397032-G-A
gnomAD v3:
1-46931360-G-A
gnomAD v4:
1-46931360-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46931360G>A , CM000663.2:g.46931360G>A | GRCh38 |
| NC_000001.10:g.47397032G>A , CM000663.1:g.47397032G>A | GRCh37 |
| NC_000001.9:g.47169619G>A | NCBI36 |
| NG_007932.1:g.15125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1365-1050C>T MANE Select | ENSP00000311095.4:n.1365-1050C>T | |
| ENST00000310638.8:c.1365-1050C>T | ENSP00000311095.4:n.1365-1050C>T | |
| ENST00000371904.8:c.1368-1050C>T | ENSP00000360971.4:n.1368-1050C>T | |
| ENST00000462347.5:c.1071-1050C>T | ENSP00000477495.1:n.1071-1050C>T | |
| ENST00000468629.5:c.*70-1050C>T | ENSP00000476619.1:n.*70-1050C>T | |
| ENST00000474458.5:c.*70-1050C>T | ENSP00000476988.1:n.*70-1050C>T | |
| ENST00000475477.5:c.*159-1050C>T | ENSP00000476854.1:n.*159-1050C>T | |
| NM_000778.3:c.1365-1050C>T | NP_000769.2:n.1365-1050C>T | |
| XM_011540826.1:c.1383-1050C>T | XP_011539128.1:n.1383-1050C>T | |
| XM_011540827.1:c.1089-1050C>T | XP_011539129.1:n.1089-1050C>T | |
| XM_011540828.1:c.1071-1050C>T | XP_011539130.1:n.1071-1050C>T | |
| XR_246241.1:n.1269-1050C>T | ||
| XR_246242.1:n.1253-1050C>T | ||
| NM_001319155.1:c.1269-1050C>T | NP_001306084.1:n.1269-1050C>T | |
| NM_001363587.1:c.1071-1050C>T | NP_001350516.1:n.1071-1050C>T | |
| NR_134988.1:n.1070-1050C>T | ||
| NR_134989.1:n.1261-1050C>T | ||
| NR_134990.1:n.1255-1050C>T | ||
| NR_134991.1:n.1242-1050C>T | ||
| NR_134992.1:n.871-1050C>T | ||
| NR_134993.1:n.1005-1050C>T | ||
| NR_134994.1:n.1277-1050C>T | ||
| XM_017000465.1:c.1053-1050C>T | XP_016855954.1:n.1053-1050C>T | |
| XR_001737005.1:n.1343-1050C>T | ||
| NM_000778.4:c.1365-1050C>T MANE Select | NP_000769.2:n.1365-1050C>T | |
| NM_001319155.2:c.1269-1050C>T | NP_001306084.1:n.1269-1050C>T | |
| NM_001363587.2:c.1071-1050C>T | NP_001350516.1:n.1071-1050C>T | |
| NR_134988.2:n.1062-1050C>T | ||
| NR_134989.2:n.1253-1050C>T | ||
| NR_134990.2:n.1247-1050C>T | ||
| NR_134991.2:n.1234-1050C>T | ||
| NR_134992.2:n.863-1050C>T | ||
| NR_134993.2:n.997-1050C>T | ||
| NR_134994.2:n.1269-1050C>T |