Linked Data
dbSNP Id:
rs1561570
gnomAD v2:
10-13155726-T-C
gnomAD v3:
10-13113726-T-C
gnomAD v4:
10-13113726-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13113726T>C , CM000672.2:g.13113726T>C | GRCh38 |
| NC_000010.10:g.13155726T>C , CM000672.1:g.13155726T>C | GRCh37 |
| NC_000010.9:g.13195732T>C | NCBI36 |
| NG_012876.1:g.18645T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378747.8:c.552+1091T>C MANE Select | ENSP00000368021.3:n.552+1091T>C | |
| ENST00000263036.9:c.552+1091T>C | ENSP00000263036.3:n.552+1091T>C | |
| ENST00000378747.7:c.552+1091T>C | ENSP00000368021.3:n.552+1091T>C | |
| ENST00000378748.7:c.552+1091T>C | ENSP00000368022.3:n.552+1091T>C | |
| ENST00000378752.7:c.552+1091T>C | ENSP00000368027.3:n.552+1091T>C | |
| ENST00000378757.6:c.552+1091T>C | ENSP00000368032.2:n.552+1091T>C | |
| ENST00000378764.6:c.552+1091T>C | ENSP00000368040.1:n.552+1091T>C | |
| ENST00000430081.5:c.*457+1091T>C | ENSP00000414747.2:n.*457+1091T>C | |
| ENST00000482140.5:c.*172+1091T>C | ENSP00000484961.1:n.*172+1091T>C | |
| ENST00000486862.1:c.149+1091T>C | ||
| NM_001008211.1:c.552+1091T>C | NP_001008212.1:n.552+1091T>C | |
| NM_001008212.1:c.552+1091T>C | NP_001008213.1:n.552+1091T>C | |
| NM_001008213.1:c.552+1091T>C | NP_001008214.1:n.552+1091T>C | |
| NM_021980.4:c.552+1091T>C | NP_068815.2:n.552+1091T>C | |
| XM_005252336.2:c.552+1091T>C | XP_005252393.2:n.552+1091T>C | |
| XM_005252337.3:c.552+1091T>C | XP_005252394.2:n.552+1091T>C | |
| XM_005252338.2:c.381+1091T>C | XP_005252395.2:n.381+1091T>C | |
| NM_001008212.2:c.552+1091T>C MANE Select | NP_001008213.1:n.552+1091T>C |