Linked Data
dbSNP Id:
rs1207377649
gnomAD v2:
1-196965043-A-G
gnomAD v3:
1-196995913-A-G
gnomAD v4:
1-196995913-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995913A>G , CM000663.2:g.196995913A>G | GRCh38 |
| NC_000001.10:g.196965043A>G , CM000663.1:g.196965043A>G | GRCh37 |
| NC_000001.9:g.195231666A>G | NCBI36 |
| NG_016365.1:g.23377A>G , LRG_227:g.23377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.535+14A>G | ENSP00000514393.1:n.535+14A>G | |
| ENST00000699467.1:n.859+14A>G | ||
| ENST00000699468.1:c.-24-201A>G | ENSP00000514394.1:n.-24-201A>G | |
| ENST00000256785.5:c.790+14A>G MANE Select | ENSP00000256785.4:n.790+14A>G | |
| ENST00000256785.4:c.790+14A>G | ENSP00000256785.4:n.790+14A>G | |
| NM_030787.3:c.790+14A>G , LRG_227t1:c.790+14A>G | NP_110414.1:n.790+14A>G | |
| XM_011510020.1:c.799+14A>G | XP_011508322.1:n.799+14A>G | |
| XM_011510020.2:c.799+14A>G | XP_011508322.1:n.799+14A>G | |
| NM_030787.4:c.790+14A>G MANE Select | NP_110414.1:n.790+14A>G |