Linked Data
dbSNP Id:
rs1240804712
gnomAD v2:
4-102750955-C-T
gnomAD v3:
4-101829798-C-T
gnomAD v4:
4-101829798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101829798C>T , CM000666.2:g.101829798C>T | GRCh38 |
| NC_000004.11:g.102750955C>T , CM000666.1:g.102750955C>T | GRCh37 |
| NC_000004.10:g.102969978C>T | NCBI36 |
| NG_015824.1:g.44192C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322953.9:c.71-10C>T MANE Select | ENSP00000320509.4:n.71-10C>T | |
| ENST00000322953.8:c.71-10C>T | ENSP00000320509.4:n.71-10C>T | |
| ENST00000428908.5:c.71-25237C>T | ENSP00000412748.1:n.71-25237C>T | |
| ENST00000444316.2:c.-20-10C>T | ENSP00000388817.2:n.-20-10C>T | |
| ENST00000504592.5:c.26-10C>T | ENSP00000421443.1:n.26-10C>T | |
| ENST00000508653.5:c.71-25237C>T | ENSP00000422314.1:n.71-25237C>T | |
| NM_001083907.2:c.-20-10C>T | NP_001077376.2:n.-20-10C>T | |
| NM_001127507.2:c.71-25237C>T | NP_001120979.2:n.71-25237C>T | |
| NM_017935.4:c.71-10C>T | NP_060405.4:n.71-10C>T | |
| XM_017008337.2:c.-20-10C>T | XP_016863826.1:n.-20-10C>T | |
| NM_017935.5:c.71-10C>T MANE Select | NP_060405.5:n.71-10C>T | |
| NM_001083907.3:c.-20-10C>T | NP_001077376.3:n.-20-10C>T | |
| NM_001127507.3:c.71-25237C>T | NP_001120979.3:n.71-25237C>T |