Linked Data
dbSNP Id:
rs2020933
gnomAD v2:
17-28561755-A-T
gnomAD v3:
17-30234737-A-T
gnomAD v4:
17-30234737-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30234737A>T , CM000679.2:g.30234737A>T | GRCh38 |
| NC_000017.10:g.28561755A>T , CM000679.1:g.28561755A>T | GRCh37 |
| NC_000017.9:g.25585881A>T | NCBI36 |
| NG_011747.2:g.6200T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650711.1:c.-221+876T>A MANE Select | ENSP00000498537.1:n.-221+876T>A | |
| ENST00000261707.7:c.-221+876T>A | ENSP00000261707.3:n.-221+876T>A | |
| ENST00000394821.2:c.-221+876T>A | ENSP00000378298.2:n.-221+876T>A | |
| ENST00000401766.6:c.-124+876T>A | ENSP00000385822.2:n.-124+876T>A | |
| NM_001045.5:c.-221+876T>A | NP_001036.1:n.-221+876T>A | |
| NM_001045.6:c.-221+876T>A MANE Select | NP_001036.1:n.-221+876T>A |