Linked Data
dbSNP Id:
rs1198538545
gnomAD v2:
19-18267105-A-G
gnomAD v3:
19-18156295-A-G
gnomAD v4:
19-18156295-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156295A>G , CM000681.2:g.18156295A>G | GRCh38 |
| NC_000019.9:g.18267105A>G , CM000681.1:g.18267105A>G | GRCh37 |
| NC_000019.8:g.18128105A>G | NCBI36 |
| NG_033010.1:g.8118A>G | |
| NG_033010.2:g.8118A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.322+94A>G MANE Select | ENSP00000222254.6:n.322+94A>G | |
| ENST00000617130.5:c.322+94A>G | ENSP00000477864.2:n.322+94A>G | |
| ENST00000617642.2:c.322+94A>G | ENSP00000484714.2:n.322+94A>G | |
| ENST00000222254.12:c.322+94A>G | ENSP00000222254.6:n.322+94A>G | |
| ENST00000426902.5:c.322+94A>G | ENSP00000395636.1:n.322+94A>G | |
| ENST00000593731.1:c.322+94A>G | ENSP00000471914.1:n.322+94A>G | |
| ENST00000617130.4:c.322+94A>G | ENSP00000477864.1:n.322+94A>G | |
| ENST00000617642.1:c.322+94A>G | ENSP00000484714.1:n.322+94A>G | |
| NM_005027.3:c.322+94A>G | NP_005018.1:n.322+94A>G | |
| NR_073517.1:n.862+94A>G | ||
| NM_005027.4:c.322+94A>G MANE Select | NP_005018.2:n.322+94A>G | |
| NR_073517.2:n.877+94A>G | ||
| NR_162071.1:n.877+94A>G |