Linked Data
dbSNP Id:
rs1130214
gnomAD v2:
14-105259734-C-A
gnomAD v3:
14-104793397-C-A
gnomAD v4:
14-104793397-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104793397C>A , CM000676.2:g.104793397C>A | GRCh38 |
| NC_000014.8:g.105259734C>A , CM000676.1:g.105259734C>A | GRCh37 |
| NC_000014.7:g.104330779C>A | NCBI36 |
| NG_012188.1:g.7348G>T , LRG_721:g.7348G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554192.6:c.-79-675G>T | ENSP00000450681.3:n.-79-675G>T | |
| ENST00000554585.6:c.-79-675G>T | ENSP00000481526.2:n.-79-675G>T | |
| ENST00000555458.6:c.-79-675G>T | ENSP00000451470.3:n.-79-675G>T | |
| ENST00000553797.2:c.-350G>T | ENSP00000507566.1:n.-350G>T | |
| ENST00000554826.2:n.60-675G>T | ||
| ENST00000610370.2:n.60-675G>T | ||
| ENST00000682269.1:n.261-93G>T | ||
| ENST00000683722.1:c.-79-675G>T | ENSP00000507879.1:n.-79-675G>T | |
| ENST00000407796.7:c.-79-675G>T | ENSP00000384293.2:n.-79-675G>T | |
| ENST00000649815.2:c.-257-93G>T MANE Select | ENSP00000497822.1:n.-257-93G>T | |
| ENST00000349310.7:c.-163-187G>T | ENSP00000270202.4:n.-163-187G>T | |
| ENST00000402615.6:c.-350G>T | ENSP00000385326.2:n.-350G>T | |
| ENST00000407796.6:c.-79-675G>T | ENSP00000384293.2:n.-79-675G>T | |
| ENST00000554581.5:c.-754G>T | ENSP00000451828.1:n.-754G>T | |
| ENST00000554848.5:c.-79-675G>T | ENSP00000451166.1:n.-79-675G>T | |
| ENST00000555528.5:c.-350G>T | ENSP00000450688.1:n.-350G>T | |
| ENST00000555926.1:c.-257-93G>T | ENSP00000451824.1:n.-257-93G>T | |
| ENST00000557494.1:n.261-93G>T | ||
| NM_001014431.1:c.-79-675G>T | NP_001014431.1:n.-79-675G>T | |
| NM_001014432.1:c.-163-187G>T , LRG_721t1:c.-163-187G>T | NP_001014432.1:n.-163-187G>T | |
| NM_005163.2:c.-350G>T , LRG_721t2:c.-350G>T | NP_005154.2:n.-350G>T | |
| XM_005267401.1:c.-79-675G>T | XP_005267458.1:n.-79-675G>T | |
| XM_011536543.1:c.-257-93G>T | XP_011534845.1:n.-257-93G>T | |
| XM_011536544.1:c.-350G>T | XP_011534846.1:n.-350G>T | |
| XR_002957536.1:n.38-187G>T | ||
| NM_001014431.2:c.-79-675G>T | NP_001014431.1:n.-79-675G>T | |
| NM_001014432.2:c.-163-187G>T | NP_001014432.1:n.-163-187G>T | |
| NM_001382430.1:c.-257-93G>T MANE Select | NP_001369359.1:n.-257-93G>T | |
| NM_001382431.1:c.-79-675G>T | NP_001369360.1:n.-79-675G>T | |
| NM_001382432.1:c.-163-187G>T | NP_001369361.1:n.-163-187G>T | |
| NM_001382433.1:c.-257-93G>T | NP_001369362.1:n.-257-93G>T |