Linked Data
dbSNP Id:
rs10194115
gnomAD v2:
2-47240012-G-T
gnomAD v3:
2-47012873-G-T
gnomAD v4:
2-47012873-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47012873G>T , CM000664.2:g.47012873G>T | GRCh38 |
| NC_000002.11:g.47240012G>T , CM000664.1:g.47240012G>T | GRCh37 |
| NC_000002.10:g.47093516G>T | NCBI36 |
| NG_034143.1:g.101745G>T | |
| NG_034143.2:g.101745G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698500.1:n.3225+1438G>T | ||
| ENST00000319190.11:c.1392+1438G>T MANE Select | ENSP00000316699.5:n.1392+1438G>T | |
| ENST00000651101.1:n.340+1438G>T | ||
| ENST00000651415.1:n.183+1438G>T | ||
| ENST00000652236.1:n.151+1438G>T | ||
| ENST00000652568.1:n.183+1438G>T | ||
| ENST00000319190.9:c.1392+1438G>T | ENSP00000316699.5:n.1392+1438G>T | |
| ENST00000394850.6:c.1392+1438G>T | ENSP00000378320.2:n.1392+1438G>T | |
| ENST00000409245.5:c.1290+1438G>T | ENSP00000386307.1:n.1290+1438G>T | |
| ENST00000409825.5:c.1340+1438G>T | ||
| ENST00000440051.1:c.317+1438G>T | ||
| ENST00000441914.5:c.1233+1438G>T | ||
| ENST00000461601.5:n.1717+1438G>T | ||
| ENST00000484061.5:n.675+1438G>T | ||
| ENST00000491786.5:n.796+1438G>T | ||
| NM_001288951.1:c.1392+1438G>T | NP_001275880.1:n.1392+1438G>T | |
| NM_001288953.1:c.1290+1438G>T | NP_001275882.1:n.1290+1438G>T | |
| NM_001288955.1:c.330+1438G>T | NP_001275884.1:n.330+1438G>T | |
| NM_020458.3:c.1392+1438G>T | NP_065191.2:n.1392+1438G>T | |
| XM_005264439.2:c.1035+1438G>T | XP_005264496.1:n.1035+1438G>T | |
| XM_011532998.1:c.1035+1438G>T | XP_011531300.1:n.1035+1438G>T | |
| XM_011532999.1:c.1392+1438G>T | XP_011531301.1:n.1392+1438G>T | |
| XM_011533000.1:c.612+1438G>T | XP_011531302.1:n.612+1438G>T | |
| XM_011533001.1:c.345+1438G>T | XP_011531303.1:n.345+1438G>T | |
| XR_939696.1:n.1697+1438G>T | ||
| XM_005264439.4:c.1035+1438G>T | XP_005264496.1:n.1035+1438G>T | |
| XM_011532998.3:c.1035+1438G>T | XP_011531300.1:n.1035+1438G>T | |
| XM_011532999.2:c.1392+1438G>T | XP_011531301.1:n.1392+1438G>T | |
| XM_011533000.3:c.612+1438G>T | XP_011531302.1:n.612+1438G>T | |
| XM_011533001.3:c.345+1438G>T | XP_011531303.1:n.345+1438G>T | |
| XM_017004524.1:c.1392+1438G>T | XP_016860013.1:n.1392+1438G>T | |
| XM_017004525.1:c.1224+1438G>T | XP_016860014.1:n.1224+1438G>T | |
| XM_017004526.1:c.1392+1438G>T | XP_016860015.1:n.1392+1438G>T | |
| XM_017004529.1:c.1392+1438G>T | XP_016860018.1:n.1392+1438G>T | |
| XM_024453013.1:c.357+1438G>T | XP_024308781.1:n.357+1438G>T | |
| XR_001738853.2:n.1704+1438G>T | ||
| XR_001738854.1:n.1703+1438G>T | ||
| NM_020458.4:c.1392+1438G>T MANE Select | NP_065191.2:n.1392+1438G>T | |
| NM_001288951.2:c.1392+1438G>T | NP_001275880.1:n.1392+1438G>T | |
| NM_001288953.2:c.1290+1438G>T | NP_001275882.1:n.1290+1438G>T | |
| NM_001288955.2:c.330+1438G>T | NP_001275884.1:n.330+1438G>T |