Linked Data
dbSNP Id:
rs2217235
gnomAD v2:
12-87145223-A-G
gnomAD v3:
12-86751446-A-G
gnomAD v4:
12-86751446-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.86751446A>G , CM000674.2:g.86751446A>G | GRCh38 |
| NC_000012.11:g.87145223A>G , CM000674.1:g.87145223A>G | GRCh37 |
| NC_000012.10:g.85669354A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000548651.6:c.-261-24205T>C | ENSP00000447253.1:n.-261-24205T>C | |
| ENST00000621808.5:c.-381-24205T>C | ENSP00000478300.1:n.-381-24205T>C | |
| ENST00000551921.2:n.240-24205T>C | ||
| ENST00000621808.4:c.-381-24205T>C | ENSP00000478300.1:n.-381-24205T>C | |
| NM_013244.3:c.-229+87220T>C | NP_037376.2:n.-229+87220T>C | |
| NM_001351285.1:c.-326-24205T>C | NP_001338214.1:n.-326-24205T>C | |
| NM_001351286.1:c.-261-24205T>C | NP_001338215.1:n.-261-24205T>C | |
| NM_013244.4:c.-229+87220T>C | NP_037376.2:n.-229+87220T>C | |
| NM_001351285.2:c.-326-24205T>C | NP_001338214.1:n.-326-24205T>C | |
| NM_001351286.2:c.-261-24205T>C | NP_001338215.1:n.-261-24205T>C | |
| NM_013244.5:c.-229+87220T>C | NP_037376.2:n.-229+87220T>C |