Linked Data
dbSNP Id:
rs2020934
gnomAD v2:
17-28561460-A-G
gnomAD v3:
17-30234442-A-G
gnomAD v4:
17-30234442-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30234442A>G , CM000679.2:g.30234442A>G | GRCh38 |
| NC_000017.10:g.28561460A>G , CM000679.1:g.28561460A>G | GRCh37 |
| NC_000017.9:g.25585586A>G | NCBI36 |
| NG_011747.2:g.6495T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650711.1:c.-221+1171T>C MANE Select | ENSP00000498537.1:n.-221+1171T>C | |
| ENST00000261707.7:c.-221+1171T>C | ENSP00000261707.3:n.-221+1171T>C | |
| ENST00000394821.2:c.-221+1171T>C | ENSP00000378298.2:n.-221+1171T>C | |
| ENST00000401766.6:c.-124+1171T>C | ENSP00000385822.2:n.-124+1171T>C | |
| NM_001045.5:c.-221+1171T>C | NP_001036.1:n.-221+1171T>C | |
| NM_001045.6:c.-221+1171T>C MANE Select | NP_001036.1:n.-221+1171T>C |