Linked Data
dbSNP Id:
rs1246943107
gnomAD v2:
19-7598809-C-G
gnomAD v3:
19-7533923-C-G
gnomAD v4:
19-7533923-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533923C>G , CM000681.2:g.7533923C>G | GRCh38 |
| NC_000019.9:g.7598809C>G , CM000681.1:g.7598809C>G | GRCh37 |
| NC_000019.8:g.7504809C>G | NCBI36 |
| NG_013374.1:g.4772C>G | |
| NG_015806.1:g.16314C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*128C>G MANE Select | ENSP00000264079.5:n.*128C>G | |
| ENST00000264079.10:c.*128C>G | ENSP00000264079.5:n.*128C>G | |
| ENST00000394321.9:n.2186C>G | ||
| ENST00000599334.1:c.599C>G | ||
| ENST00000601870.1:c.169+55C>G | ||
| ENST00000602227.1:n.425C>G | ||
| NM_020533.2:c.*128C>G | NP_065394.1:n.*128C>G | |
| NM_020533.3:c.*128C>G MANE Select | NP_065394.1:n.*128C>G |