Linked Data
dbSNP Id:
rs4721295
gnomAD v2:
7-2036669-T-G
gnomAD v3:
7-1997034-T-G
gnomAD v4:
7-1997034-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1997034T>G , CM000669.2:g.1997034T>G | GRCh38 |
| NC_000007.13:g.2036669T>G , CM000669.1:g.2036669T>G | GRCh37 |
| NC_000007.12:g.2003195T>G | NCBI36 |
| NG_011518.1:g.240915A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265854.12:c.1416+5031A>C MANE Select | ENSP00000265854.7:n.1416+5031A>C | |
| ENST00000651235.1:c.*4176+5031A>C | ENSP00000498895.1:n.*4176+5031A>C | |
| ENST00000265854.11:c.1416+5031A>C | ENSP00000265854.7:n.1416+5031A>C | |
| ENST00000399654.6:c.1416+5031A>C | ENSP00000382562.2:n.1416+5031A>C | |
| ENST00000402746.5:c.1140+5031A>C | ENSP00000384155.1:n.1140+5031A>C | |
| ENST00000406869.5:c.1416+5031A>C | ENSP00000385334.1:n.1416+5031A>C | |
| ENST00000438959.5:c.417+5031A>C | ENSP00000414877.1:n.417+5031A>C | |
| ENST00000444373.6:c.186+5031A>C | ENSP00000393037.2:n.186+5031A>C | |
| NM_001013836.1:c.1416+5031A>C | NP_001013858.1:n.1416+5031A>C | |
| NM_001013837.1:c.1416+5031A>C | NP_001013859.1:n.1416+5031A>C | |
| NM_001304523.1:c.1416+5031A>C | NP_001291452.1:n.1416+5031A>C | |
| NM_001304524.1:c.1140+5031A>C | NP_001291453.1:n.1140+5031A>C | |
| NM_003550.2:c.1416+5031A>C | NP_003541.2:n.1416+5031A>C | |
| XM_005249877.1:c.1275+5031A>C | XP_005249934.1:n.1275+5031A>C | |
| XM_011515567.1:c.1360-16493A>C | XP_011513869.1:n.1360-16493A>C | |
| XM_011515568.1:c.1417-4657A>C | XP_011513870.1:n.1417-4657A>C | |
| XM_011515569.1:c.186+5031A>C | XP_011513871.1:n.186+5031A>C | |
| XM_011515571.1:c.186+5031A>C | XP_011513873.1:n.186+5031A>C | |
| XM_011515568.3:c.1417-4657A>C | XP_011513870.1:n.1417-4657A>C | |
| XM_011515569.3:c.450+5031A>C | XP_011513871.2:n.450+5031A>C | |
| XM_017012690.1:c.1608+5031A>C | XP_016868179.1:n.1608+5031A>C | |
| XM_017012691.2:c.186+5031A>C | XP_016868180.1:n.186+5031A>C | |
| XM_024446951.1:c.1360-16493A>C | XP_024302719.1:n.1360-16493A>C | |
| XM_024446952.1:c.1360-16493A>C | XP_024302720.1:n.1360-16493A>C | |
| NM_001013836.2:c.1416+5031A>C MANE Select | NP_001013858.1:n.1416+5031A>C | |
| NM_001013837.2:c.1416+5031A>C | NP_001013859.1:n.1416+5031A>C | |
| NM_001304523.2:c.1416+5031A>C | NP_001291452.1:n.1416+5031A>C | |
| NM_001304524.2:c.1140+5031A>C | NP_001291453.1:n.1140+5031A>C | |
| NM_003550.3:c.1416+5031A>C | NP_003541.2:n.1416+5031A>C |