Linked Data
dbSNP Id:
rs1026054079
gnomAD v2:
12-129094998-A-C
gnomAD v3:
12-128610453-A-C
gnomAD v4:
12-128610453-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128610453A>C , CM000674.2:g.128610453A>C | GRCh38 |
| NC_000012.11:g.129094998A>C , CM000674.1:g.129094998A>C | GRCh37 |
| NC_000012.10:g.127660951A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435159.3:c.1122-5699A>C MANE Select | ENSP00000410852.2:n.1122-5699A>C | |
| ENST00000435159.2:c.1122-5699A>C | ENSP00000410852.2:n.1122-5699A>C | |
| NM_001136103.2:c.1122-5699A>C | NP_001129575.2:n.1122-5699A>C | |
| XM_011538998.1:c.1062-5699A>C | XP_011537300.1:n.1062-5699A>C | |
| XM_011538998.2:c.1062-5699A>C | XP_011537300.1:n.1062-5699A>C | |
| XR_001748922.1:n.1355-5699A>C | ||
| NM_001136103.3:c.1122-5699A>C MANE Select | NP_001129575.2:n.1122-5699A>C | |
| NM_001387058.1:c.1062-5699A>C | NP_001373987.1:n.1062-5699A>C |