Linked Data
dbSNP Id:
rs1447081590
gnomAD v2:
19-41197893-C-A
gnomAD v3:
19-40691988-C-A
gnomAD v4:
19-40691988-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40691988C>A , CM000681.2:g.40691988C>A | GRCh38 |
| NC_000019.9:g.41197893C>A , CM000681.1:g.41197893C>A | GRCh37 |
| NC_000019.8:g.45889733C>A | NCBI36 |
| NG_027800.1:g.29898G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.*47G>T MANE Select | ENSP00000315118.3:n.*47G>T | |
| ENST00000593724.2:n.3505G>T | ||
| ENST00000594490.6:c.*47G>T | ENSP00000471310.2:n.*47G>T | |
| ENST00000594720.6:c.*47G>T | ENSP00000470876.2:n.*47G>T | |
| ENST00000596455.6:n.1974G>T | ||
| ENST00000601967.6:c.*47G>T | ENSP00000470916.2:n.*47G>T | |
| ENST00000676555.1:c.*1107G>T | ENSP00000503387.1:n.*1107G>T | |
| ENST00000676578.1:c.*1424G>T | ENSP00000504076.1:n.*1424G>T | |
| ENST00000676960.1:n.1807G>T | ||
| ENST00000676962.1:n.1961G>T | ||
| ENST00000677018.1:c.*47G>T | ENSP00000503480.1:n.*47G>T | |
| ENST00000677039.1:n.3885G>T | ||
| ENST00000677399.1:n.2124G>T | ||
| ENST00000677496.1:c.*47G>T | ENSP00000504773.1:n.*47G>T | |
| ENST00000677517.1:c.*47G>T | ENSP00000503519.1:n.*47G>T | |
| ENST00000677633.1:c.*1105G>T | ENSP00000503645.1:n.*1105G>T | |
| ENST00000677800.1:c.*4786G>T | ENSP00000503794.1:n.*4786G>T | |
| ENST00000678057.1:c.*1246G>T | ENSP00000503762.1:n.*1246G>T | |
| ENST00000678119.1:n.1876G>T | ||
| ENST00000678166.1:n.1825G>T | ||
| ENST00000678312.1:n.2019G>T | ||
| ENST00000678316.1:c.*1105G>T | ENSP00000504112.1:n.*1105G>T | |
| ENST00000678371.1:n.2132G>T | ||
| ENST00000678404.1:c.*47G>T | ENSP00000503944.1:n.*47G>T | |
| ENST00000678419.1:c.*47G>T | ENSP00000504085.1:n.*47G>T | |
| ENST00000678433.1:n.2038G>T | ||
| ENST00000678467.1:c.*47G>T | ENSP00000504072.1:n.*47G>T | |
| ENST00000678569.1:c.*667G>T | ENSP00000504261.1:n.*667G>T | |
| ENST00000678961.1:n.2037G>T | ||
| ENST00000679002.1:n.1861G>T | ||
| ENST00000679012.1:c.*47G>T | ENSP00000504446.1:n.*47G>T | |
| ENST00000679070.1:c.*1101G>T | ENSP00000503759.1:n.*1101G>T | |
| ENST00000679130.1:c.*47G>T | ENSP00000504845.1:n.*47G>T | |
| ENST00000679315.1:c.*1512G>T | ENSP00000503065.1:n.*1512G>T | |
| ENST00000243583.10:c.*47G>T | ENSP00000243583.5:n.*47G>T | |
| ENST00000324464.7:c.*47G>T | ENSP00000315118.3:n.*47G>T | |
| ENST00000593724.1:n.1797G>T | ||
| NM_001142555.2:c.*47G>T | NP_001136027.1:n.*47G>T | |
| NM_024876.3:c.*47G>T | NP_079152.3:n.*47G>T | |
| XM_005259270.3:c.*47G>T | XP_005259327.2:n.*47G>T | |
| XM_005259271.3:c.*47G>T | XP_005259328.1:n.*47G>T | |
| XM_005259272.3:c.*47G>T | XP_005259329.1:n.*47G>T | |
| XM_005259273.3:c.*47G>T | XP_005259330.1:n.*47G>T | |
| XM_006723392.2:c.*47G>T | XP_006723455.1:n.*47G>T | |
| XM_006723393.2:c.*47G>T | XP_006723456.1:n.*47G>T | |
| XM_011527334.1:c.*47G>T | XP_011525636.1:n.*47G>T | |
| XM_011527335.1:c.*47G>T | XP_011525637.1:n.*47G>T | |
| XM_011527336.1:c.*47G>T | XP_011525638.1:n.*47G>T | |
| XM_011527337.1:c.*47G>T | XP_011525639.1:n.*47G>T | |
| XM_011527338.1:c.*47G>T | XP_011525640.1:n.*47G>T | |
| NM_024876.4:c.*47G>T MANE Select | NP_079152.3:n.*47G>T | |
| NM_001142555.3:c.*47G>T | NP_001136027.1:n.*47G>T |