Linked Data
dbSNP Id:
rs7689753
gnomAD v2:
4-100055575-A-G
gnomAD v3:
4-99134424-A-G
gnomAD v4:
4-99134424-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99134424A>G , CM000666.2:g.99134424A>G | GRCh38 |
| NC_000004.11:g.100055575A>G , CM000666.1:g.100055575A>G | GRCh37 |
| NC_000004.10:g.100274598A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265512.12:c.582+2042T>C MANE Select | ENSP00000265512.7:n.582+2042T>C | |
| ENST00000265512.11:c.582+2042T>C | ENSP00000265512.7:n.582+2042T>C | |
| ENST00000503416.5:n.595+2042T>C | ||
| ENST00000504125.1:c.528+2042T>C | ENSP00000427525.1:n.528+2042T>C | |
| ENST00000505590.5:c.639+2042T>C | ENSP00000425416.1:n.639+2042T>C | |
| ENST00000506705.5:c.*556+2042T>C | ENSP00000426667.1:n.*556+2042T>C | |
| ENST00000508393.5:c.639+2042T>C | ENSP00000424630.1:n.639+2042T>C | |
| ENST00000509471.5:c.72+2042T>C | ENSP00000424583.1:n.72+2042T>C | |
| ENST00000512499.5:c.639+2042T>C | ENSP00000423571.1:n.639+2042T>C | |
| ENST00000629236.2:c.582+2042T>C | ENSP00000486450.1:n.582+2042T>C | |
| NM_000670.3:c.582+2042T>C | NP_000661.2:n.582+2042T>C | |
| NM_000670.4:c.582+2042T>C | NP_000661.2:n.582+2042T>C | |
| NM_001306171.1:c.639+2042T>C | NP_001293100.1:n.639+2042T>C | |
| NM_001306172.1:c.639+2042T>C | NP_001293101.1:n.639+2042T>C | |
| NR_037884.1:n.679+619A>G | ||
| XR_938685.1:n.810+2042T>C | ||
| XR_938686.1:n.801+2042T>C | ||
| XR_938687.1:n.674+2042T>C | ||
| NM_000670.5:c.582+2042T>C MANE Select | NP_000661.2:n.582+2042T>C | |
| NM_001306171.2:c.639+2042T>C | NP_001293100.1:n.639+2042T>C | |
| NM_001306172.2:c.639+2042T>C | NP_001293101.1:n.639+2042T>C |