Linked Data
dbSNP Id:
rs544941226
gnomAD v2:
6-160453902-A-G
gnomAD v3:
6-160032870-A-G
gnomAD v4:
6-160032870-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160032870A>G , CM000668.2:g.160032870A>G | GRCh38 |
| NC_000006.11:g.160453902A>G , CM000668.1:g.160453902A>G | GRCh37 |
| NC_000006.10:g.160373892A>G | NCBI36 |
| NG_011785.3:g.68772A>G | |
| NG_011785.4:g.68772A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356956.6:c.1046-72A>G MANE Select | ENSP00000349437.1:n.1046-72A>G | |
| ENST00000649737.1:n.283-72A>G | ||
| ENST00000676781.1:c.1046-72A>G | ENSP00000504419.1:n.1046-72A>G | |
| ENST00000677704.1:c.1046-72A>G | ENSP00000503314.1:n.1046-72A>G | |
| ENST00000356956.5:c.1046-72A>G | ENSP00000349437.1:n.1046-72A>G | |
| NM_000876.2:c.1046-72A>G | NP_000867.2:n.1046-72A>G | |
| XR_942419.1:n.1061-72A>G | ||
| NM_000876.3:c.1046-72A>G | NP_000867.2:n.1046-72A>G | |
| NM_000876.4:c.1046-72A>G MANE Select | NP_000867.3:n.1046-72A>G |