Linked Data
dbSNP Id:
rs1043136087
gnomAD v2:
17-27838075-A-C
gnomAD v3:
17-29511057-A-C
gnomAD v4:
17-29511057-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29511057A>C , CM000679.2:g.29511057A>C | GRCh38 |
| NC_000017.10:g.27838075A>C , CM000679.1:g.27838075A>C | GRCh37 |
| NC_000017.9:g.24862201A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.1704+65A>C MANE Select | ENSP00000261716.3:n.1704+65A>C | |
| ENST00000261716.7:c.1704+65A>C | ENSP00000261716.3:n.1704+65A>C | |
| ENST00000536202.1:c.1704+65A>C | ENSP00000438819.1:n.1704+65A>C | |
| ENST00000577583.1:n.1617A>C | ||
| NM_020791.2:c.1704+65A>C | NP_065842.1:n.1704+65A>C | |
| NM_025142.1:c.1704+65A>C | NP_079418.1:n.1704+65A>C | |
| XM_011525060.1:c.1704+65A>C | XP_011523362.1:n.1704+65A>C | |
| XM_011525060.2:c.1704+65A>C | XP_011523362.1:n.1704+65A>C | |
| NM_020791.4:c.1704+65A>C MANE Select | NP_065842.1:n.1704+65A>C |