Linked Data
gnomAD v4:
2-189001251-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189001251A>C , CM000664.2:g.189001251A>C | GRCh38 |
| NC_000002.11:g.189865977A>C , CM000664.1:g.189865977A>C | GRCh37 |
| NC_000002.10:g.189574222A>C | NCBI36 |
| NG_007404.1:g.31879A>C , LRG_3:g.31879A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2185-146A>C | ENSP00000415346.2:n.2185-146A>C | |
| ENST00000304636.9:c.2284-146A>C MANE Select | ENSP00000304408.4:n.2284-146A>C | |
| ENST00000304636.7:c.2284-146A>C | ENSP00000304408.3:n.2284-146A>C | |
| ENST00000317840.9:c.2284-146A>C | ENSP00000315243.6:n.2284-146A>C | |
| NM_000090.3:c.2284-146A>C , LRG_3t1:c.2284-146A>C | NP_000081.1:n.2284-146A>C | |
| NM_000090.4:c.2284-146A>C MANE Select | NP_000081.2:n.2284-146A>C |