Linked Data
dbSNP Id:
rs10519937
gnomAD v2:
5-126721853-C-T
gnomAD v3:
5-127386161-C-T
gnomAD v4:
5-127386161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127386161C>T , CM000667.2:g.127386161C>T | GRCh38 |
| NC_000005.9:g.126721853C>T , CM000667.1:g.126721853C>T | GRCh37 |
| NC_000005.8:g.126749752C>T | NCBI36 |
| NG_032072.1:g.100398C>T | |
| NG_032072.2:g.100398C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503335.7:c.413-10371C>T MANE Select | ENSP00000423354.2:n.413-10371C>T | |
| ENST00000274473.6:c.413-10371C>T | ENSP00000274473.6:n.413-10371C>T | |
| ENST00000418761.6:c.413-10371C>T | ENSP00000416284.2:n.413-10371C>T | |
| ENST00000503335.6:c.413-10371C>T | ENSP00000423354.2:n.413-10371C>T | |
| ENST00000508365.5:c.413-10371C>T | ENSP00000423195.1:n.413-10371C>T | |
| NM_001256545.1:c.413-10371C>T | NP_001243474.1:n.413-10371C>T | |
| NM_001308119.1:c.413-10371C>T | NP_001295048.1:n.413-10371C>T | |
| NM_001308121.1:c.413-10371C>T | NP_001295050.1:n.413-10371C>T | |
| NM_032446.2:c.413-10371C>T | NP_115822.1:n.413-10371C>T | |
| XM_011543692.1:c.413-10371C>T | XP_011541994.1:n.413-10371C>T | |
| XM_011543693.1:c.413-10371C>T | XP_011541995.1:n.413-10371C>T | |
| XM_011543694.1:c.413-10371C>T | XP_011541996.1:n.413-10371C>T | |
| XM_017009987.1:c.578-10371C>T | XP_016865476.1:n.578-10371C>T | |
| NM_001256545.2:c.413-10371C>T MANE Select | NP_001243474.1:n.413-10371C>T | |
| NM_032446.3:c.413-10371C>T | NP_115822.1:n.413-10371C>T | |
| NM_001308119.2:c.413-10371C>T | NP_001295048.1:n.413-10371C>T | |
| NM_001308121.2:c.413-10371C>T | NP_001295050.1:n.413-10371C>T |