Linked Data
dbSNP Id:
rs8110090
gnomAD v2:
19-41845872-A-G
gnomAD v3:
19-41339967-A-G
gnomAD v4:
19-41339967-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41339967A>G , CM000681.2:g.41339967A>G | GRCh38 |
| NC_000019.9:g.41845872A>G , CM000681.1:g.41845872A>G | GRCh37 |
| NC_000019.8:g.46537712A>G | NCBI36 |
| NG_013364.1:g.18960T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.860+1916T>C MANE Select | ENSP00000221930.4:n.860+1916T>C | |
| ENST00000600196.2:c.712+2203T>C | ENSP00000504008.1:n.712+2203T>C | |
| ENST00000677934.1:c.634+4780T>C | ENSP00000504769.1:n.634+4780T>C | |
| ENST00000221930.5:c.860+1916T>C | ENSP00000221930.4:n.860+1916T>C | |
| ENST00000598758.5:c.148+1916T>C | ||
| ENST00000600196.1:n.172+2203T>C | ||
| NM_000660.5:c.860+1916T>C | NP_000651.3:n.860+1916T>C | |
| XM_011527242.1:c.863+1916T>C | XP_011525544.1:n.863+1916T>C | |
| NM_000660.6:c.860+1916T>C | NP_000651.3:n.860+1916T>C | |
| XM_011527242.2:c.863+1916T>C | XP_011525544.1:n.863+1916T>C | |
| NM_000660.7:c.860+1916T>C MANE Select | NP_000651.3:n.860+1916T>C |