Linked Data
dbSNP Id:
rs10510755
gnomAD v2:
3-50281168-C-T
gnomAD v3:
3-50243736-C-T
gnomAD v4:
3-50243736-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50243736C>T , CM000665.2:g.50243736C>T | GRCh38 |
| NC_000003.11:g.50281168C>T , CM000665.1:g.50281168C>T | GRCh37 |
| NC_000003.10:g.50256172C>T | NCBI36 |
| NG_016002.2:g.22049C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313601.11:c.118+7283C>T MANE Select | ENSP00000312999.6:n.118+7283C>T | |
| ENST00000266027.9:c.-38-8364C>T | ENSP00000266027.6:n.-38-8364C>T | |
| ENST00000313601.10:c.118+7283C>T | ENSP00000312999.6:n.118+7283C>T | |
| ENST00000422163.5:c.71-8364C>T | ENSP00000406871.1:n.71-8364C>T | |
| ENST00000440628.5:c.-39+5320C>T | ENSP00000395736.1:n.-39+5320C>T | |
| ENST00000441156.5:c.118+7283C>T | ENSP00000394321.1:n.118+7283C>T | |
| ENST00000446079.5:c.71-7884C>T | ENSP00000406065.1:n.71-7884C>T | |
| ENST00000491100.5:n.1935-8364C>T | ||
| NM_001282617.1:c.-38-8364C>T | NP_001269546.1:n.-38-8364C>T | |
| NM_001282618.1:c.-83+7283C>T | NP_001269547.1:n.-83+7283C>T | |
| NM_001282619.1:c.-54-7884C>T | NP_001269548.1:n.-54-7884C>T | |
| NM_001282620.1:c.71-8364C>T | NP_001269549.1:n.71-8364C>T | |
| NM_002070.3:c.118+7283C>T | NP_002061.1:n.118+7283C>T | |
| NM_002070.4:c.118+7283C>T MANE Select | NP_002061.1:n.118+7283C>T | |
| NM_001282618.2:c.-83+7283C>T | NP_001269547.1:n.-83+7283C>T | |
| NM_001282619.2:c.-54-7884C>T | NP_001269548.1:n.-54-7884C>T | |
| NM_001282620.2:c.71-8364C>T | NP_001269549.1:n.71-8364C>T | |
| NM_001282617.2:c.-38-8364C>T | NP_001269546.1:n.-38-8364C>T |