Linked Data
dbSNP Id:
rs6917747
gnomAD v2:
6-160402705-G-A
gnomAD v3:
6-159981673-G-A
gnomAD v4:
6-159981673-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159981673G>A , CM000668.2:g.159981673G>A | GRCh38 |
| NC_000006.11:g.160402705G>A , CM000668.1:g.160402705G>A | GRCh37 |
| NC_000006.10:g.160322695G>A | NCBI36 |
| NG_011785.3:g.17575G>A | |
| NG_011785.4:g.17575G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356956.6:c.150-9511G>A MANE Select | ENSP00000349437.1:n.150-9511G>A | |
| ENST00000676781.1:c.150-9511G>A | ENSP00000504419.1:n.150-9511G>A | |
| ENST00000677704.1:c.150-9511G>A | ENSP00000503314.1:n.150-9511G>A | |
| ENST00000356956.5:c.150-9511G>A | ENSP00000349437.1:n.150-9511G>A | |
| NM_000876.2:c.150-9511G>A | NP_000867.2:n.150-9511G>A | |
| XR_942419.1:n.165-9511G>A | ||
| NM_000876.3:c.150-9511G>A | NP_000867.2:n.150-9511G>A | |
| NM_000876.4:c.150-9511G>A MANE Select | NP_000867.3:n.150-9511G>A |