Linked Data
dbSNP Id:
rs143954261
gnomAD v2:
5-126729450-G-C
gnomAD v3:
5-127393758-G-C
gnomAD v4:
5-127393758-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127393758G>C , CM000667.2:g.127393758G>C | GRCh38 |
| NC_000005.9:g.126729450G>C , CM000667.1:g.126729450G>C | GRCh37 |
| NC_000005.8:g.126757349G>C | NCBI36 |
| NG_032072.1:g.107995G>C | |
| NG_032072.2:g.107995G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503335.7:c.413-2774G>C MANE Select | ENSP00000423354.2:n.413-2774G>C | |
| ENST00000274473.6:c.413-2774G>C | ENSP00000274473.6:n.413-2774G>C | |
| ENST00000418761.6:c.413-2774G>C | ENSP00000416284.2:n.413-2774G>C | |
| ENST00000503335.6:c.413-2774G>C | ENSP00000423354.2:n.413-2774G>C | |
| ENST00000508365.5:c.413-2774G>C | ENSP00000423195.1:n.413-2774G>C | |
| NM_001256545.1:c.413-2774G>C | NP_001243474.1:n.413-2774G>C | |
| NM_001308119.1:c.413-2774G>C | NP_001295048.1:n.413-2774G>C | |
| NM_001308121.1:c.413-2774G>C | NP_001295050.1:n.413-2774G>C | |
| NM_032446.2:c.413-2774G>C | NP_115822.1:n.413-2774G>C | |
| XM_011543692.1:c.413-2774G>C | XP_011541994.1:n.413-2774G>C | |
| XM_011543693.1:c.413-2774G>C | XP_011541995.1:n.413-2774G>C | |
| XM_011543694.1:c.413-2774G>C | XP_011541996.1:n.413-2774G>C | |
| XM_017009987.1:c.578-2774G>C | XP_016865476.1:n.578-2774G>C | |
| NM_001256545.2:c.413-2774G>C MANE Select | NP_001243474.1:n.413-2774G>C | |
| NM_032446.3:c.413-2774G>C | NP_115822.1:n.413-2774G>C | |
| NM_001308119.2:c.413-2774G>C | NP_001295048.1:n.413-2774G>C | |
| NM_001308121.2:c.413-2774G>C | NP_001295050.1:n.413-2774G>C |