Linked Data
dbSNP Id:
rs2296135
gnomAD v2:
10-5994694-A-C
gnomAD v3:
10-5952731-A-C
gnomAD v4:
10-5952731-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5952731A>C , CM000672.2:g.5952731A>C | GRCh38 |
| NC_000010.10:g.5994694A>C , CM000672.1:g.5994694A>C | GRCh37 |
| NC_000010.9:g.6034700A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379977.8:c.*364T>G MANE Select | ENSP00000369312.3:n.*364T>G | |
| ENST00000379972.6:n.1293T>G | ||
| ENST00000379977.7:c.*364T>G | ENSP00000369312.3:n.*364T>G | |
| ENST00000397248.6:c.*364T>G | ENSP00000380421.3:n.*364T>G | |
| ENST00000397251.7:c.846-1907T>G | ENSP00000380423.3:n.846-1907T>G | |
| ENST00000435171.6:c.311-3491T>G | ||
| ENST00000525219.6:c.*364T>G | ENSP00000431529.2:n.*364T>G | |
| ENST00000532948.5:n.1243T>G | ||
| ENST00000534292.5:n.1349T>G | ||
| ENST00000618528.4:c.845+3648T>G | ENSP00000479938.1:n.845+3648T>G | |
| ENST00000620345.4:c.845+3648T>G | ENSP00000479839.1:n.845+3648T>G | |
| NM_001243539.1:c.*364T>G | NP_001230468.1:n.*364T>G | |
| NM_001256765.1:c.*364T>G | NP_001243694.1:n.*364T>G | |
| NM_002189.3:c.*364T>G | NP_002180.1:n.*364T>G | |
| NM_172200.2:c.*364T>G | NP_751950.2:n.*364T>G | |
| NR_046362.1:n.1197T>G | ||
| XM_011519461.1:c.1020-3491T>G | XP_011517763.1:n.1020-3491T>G | |
| XM_011519462.1:c.951-3491T>G | XP_011517764.1:n.951-3491T>G | |
| XM_011519463.1:c.921-3491T>G | XP_011517765.1:n.921-3491T>G | |
| XM_011519464.1:c.867-3491T>G | XP_011517766.1:n.867-3491T>G | |
| XM_011519465.1:c.*364T>G | XP_011517767.1:n.*364T>G | |
| XM_011519467.1:c.798-3491T>G | XP_011517769.1:n.798-3491T>G | |
| XM_011519468.1:c.1020-3414T>G | XP_011517770.1:n.1020-3414T>G | |
| XM_011519469.1:c.*364T>G | XP_011517771.1:n.*364T>G | |
| XM_011519470.1:c.699-3491T>G | XP_011517772.1:n.699-3491T>G | |
| XM_011519471.1:c.672-3491T>G | XP_011517773.1:n.672-3491T>G | |
| XM_011519472.1:c.603-3491T>G | XP_011517774.1:n.603-3491T>G | |
| XM_011519473.1:c.585-3491T>G | XP_011517775.1:n.585-3491T>G | |
| XM_011519474.1:c.573-3491T>G | XP_011517776.1:n.573-3491T>G | |
| XM_011519475.1:c.504-3491T>G | XP_011517777.1:n.504-3491T>G | |
| XM_011519476.1:c.*364T>G | XP_011517778.1:n.*364T>G | |
| NM_001351095.1:c.*529T>G | NP_001338024.1:n.*529T>G | |
| NM_001351096.1:c.*529T>G | NP_001338025.1:n.*529T>G | |
| NM_001351097.1:c.*364T>G | NP_001338026.1:n.*364T>G | |
| XM_011519461.2:c.1020-3491T>G | XP_011517763.1:n.1020-3491T>G | |
| XM_011519462.2:c.951-3491T>G | XP_011517764.1:n.951-3491T>G | |
| XM_011519463.2:c.921-3491T>G | XP_011517765.1:n.921-3491T>G | |
| XM_011519464.2:c.867-3491T>G | XP_011517766.1:n.867-3491T>G | |
| XM_011519466.2:c.*529T>G | XP_011517768.1:n.*529T>G | |
| XM_011519467.2:c.798-3491T>G | XP_011517769.1:n.798-3491T>G | |
| XM_011519470.2:c.699-3491T>G | XP_011517772.1:n.699-3491T>G | |
| XM_011519471.2:c.672-3491T>G | XP_011517773.1:n.672-3491T>G | |
| XM_011519472.2:c.603-3491T>G | XP_011517774.1:n.603-3491T>G | |
| XM_011519474.2:c.573-3491T>G | XP_011517776.1:n.573-3491T>G | |
| XM_011519475.2:c.504-3491T>G | XP_011517777.1:n.504-3491T>G | |
| XM_011519476.2:c.*364T>G | XP_011517778.1:n.*364T>G | |
| XM_011519477.2:c.*529T>G | XP_011517779.1:n.*529T>G | |
| XM_017016195.1:c.*364T>G | XP_016871684.1:n.*364T>G | |
| XM_017016196.1:c.585-3491T>G | XP_016871685.1:n.585-3491T>G | |
| XM_017016197.2:c.585-3491T>G | XP_016871686.1:n.585-3491T>G | |
| XM_017016198.1:c.*364T>G | XP_016871687.1:n.*364T>G | |
| XM_017016200.2:c.486-3491T>G | XP_016871689.1:n.486-3491T>G | |
| XM_024447983.1:c.*529T>G | XP_024303751.1:n.*529T>G | |
| NM_002189.4:c.*364T>G MANE Select | NP_002180.1:n.*364T>G | |
| NM_001351097.2:c.*364T>G | NP_001338026.1:n.*364T>G | |
| NM_172200.3:c.*364T>G | NP_751950.2:n.*364T>G | |
| NR_046362.2:n.1056T>G | ||
| NM_001243539.2:c.*364T>G | NP_001230468.1:n.*364T>G | |
| NM_001351095.2:c.*529T>G | NP_001338024.1:n.*529T>G |