Linked Data
dbSNP Id:
rs2629751
gnomAD v2:
12-104421808-A-G
gnomAD v3:
12-104028030-A-G
gnomAD v4:
12-104028030-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.104028030A>G , CM000674.2:g.104028030A>G | GRCh38 |
| NC_000012.11:g.104421808A>G , CM000674.1:g.104421808A>G | GRCh37 |
| NC_000012.10:g.102945938A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360814.9:c.-163-6539T>C MANE Select | ENSP00000354053.4:n.-163-6539T>C | |
| ENST00000360814.8:c.-163-6539T>C | ENSP00000354053.4:n.-163-6539T>C | |
| ENST00000546436.5:c.-29+1666T>C | ENSP00000449750.1:n.-29+1666T>C | |
| ENST00000546851.1:c.-72+21393T>C | ENSP00000446810.1:n.-72+21393T>C | |
| ENST00000547583.1:c.-163-6539T>C | ENSP00000448065.1:n.-163-6539T>C | |
| ENST00000548660.5:c.-28-8354T>C | ENSP00000447450.1:n.-28-8354T>C | |
| ENST00000550816.1:n.128-8354T>C | ||
| NM_001316967.1:c.-28-8354T>C | NP_001303896.1:n.-28-8354T>C | |
| NM_031302.3:c.-163-6539T>C | NP_112592.1:n.-163-6539T>C | |
| NM_031302.4:c.-163-6539T>C | NP_112592.1:n.-163-6539T>C | |
| XM_011538793.1:c.-163-6539T>C | XP_011537095.1:n.-163-6539T>C | |
| XM_011538794.1:c.-164+1666T>C | XP_011537096.1:n.-164+1666T>C | |
| XM_011538793.3:c.-163-6539T>C | XP_011537095.1:n.-163-6539T>C | |
| XM_017019999.1:c.-163-6539T>C | XP_016875488.1:n.-163-6539T>C | |
| NM_001316967.2:c.-28-8354T>C | NP_001303896.1:n.-28-8354T>C | |
| NM_001384711.1:c.-163-6539T>C MANE Select | NP_001371640.1:n.-163-6539T>C | |
| NM_001384712.1:c.-28-8354T>C | NP_001371641.1:n.-28-8354T>C | |
| NM_001384713.1:c.-163-6539T>C | NP_001371642.1:n.-163-6539T>C | |
| NM_001384715.1:c.-163-6539T>C | NP_001371644.1:n.-163-6539T>C | |
| NM_001384716.1:c.-28-8354T>C | NP_001371645.1:n.-28-8354T>C | |
| NM_001384717.1:c.-163-6539T>C | NP_001371646.1:n.-163-6539T>C | |
| NM_001384718.1:c.-163-6539T>C | NP_001371647.1:n.-163-6539T>C | |
| NM_001384719.1:c.-163-6539T>C | NP_001371648.1:n.-163-6539T>C | |
| NM_001384720.1:c.-163-6539T>C | NP_001371649.1:n.-163-6539T>C | |
| NM_001384721.1:c.-163-6539T>C | NP_001371650.1:n.-163-6539T>C | |
| NM_001384722.1:c.-163-6539T>C | NP_001371651.1:n.-163-6539T>C | |
| NM_031302.5:c.-163-6539T>C | NP_112592.1:n.-163-6539T>C |