Linked Data
dbSNP Id:
rs645078
gnomAD v2:
11-64135298-A-C
gnomAD v3:
11-64367826-A-C
gnomAD v4:
11-64367826-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64367826A>C , CM000673.2:g.64367826A>C | GRCh38 |
| NC_000011.9:g.64135298A>C , CM000673.1:g.64135298A>C | GRCh37 |
| NC_000011.8:g.63891874A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334205.9:c.1072-306A>C MANE Select | ENSP00000333896.4:n.1072-306A>C | |
| ENST00000334205.8:c.1072-306A>C | ENSP00000333896.4:n.1072-306A>C | |
| ENST00000528057.5:c.1072-306A>C | ENSP00000435580.1:n.1072-306A>C | |
| ENST00000528355.5:c.*879-306A>C | ENSP00000435314.1:n.*879-306A>C | |
| ENST00000530504.1:c.1024-306A>C | ENSP00000432945.1:n.1024-306A>C | |
| ENST00000532885.5:n.631-306A>C | ||
| NM_001006944.1:c.1072-306A>C | NP_001006945.1:n.1072-306A>C | |
| NM_001300802.1:c.1072-306A>C | NP_001287731.1:n.1072-306A>C | |
| NM_003942.2:c.1072-306A>C | NP_003933.1:n.1072-306A>C | |
| XM_005274380.1:c.907-306A>C | XP_005274437.1:n.907-306A>C | |
| XM_005274381.3:c.883-306A>C | XP_005274438.1:n.883-306A>C | |
| NM_001318361.1:c.883-306A>C | NP_001305290.1:n.883-306A>C | |
| XM_017018527.2:c.-51-306A>C | XP_016874016.1:n.-51-306A>C | |
| NM_003942.3:c.1072-306A>C MANE Select | NP_003933.1:n.1072-306A>C | |
| NM_001006944.2:c.1072-306A>C | NP_001006945.1:n.1072-306A>C | |
| NM_001300802.2:c.1072-306A>C | NP_001287731.1:n.1072-306A>C | |
| NM_001318361.2:c.883-306A>C | NP_001305290.1:n.883-306A>C |