Linked Data
dbSNP Id:
rs764218923
ExAC:
6:18139143 T / C
gnomAD v2:
6-18139143-T-C
gnomAD v3:
6-18138912-T-C
gnomAD v4:
6-18138912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18138912T>C , CM000668.2:g.18138912T>C | GRCh38 |
| NC_000006.11:g.18139143T>C , CM000668.1:g.18139143T>C | GRCh37 |
| NC_000006.10:g.18247122T>C | NCBI36 |
| NG_012137.2:g.21232A>G | |
| NG_012137.3:g.21232A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.494+51A>G MANE Select | ENSP00000312304.4:n.494+51A>G | |
| ENST00000309983.4:c.494+51A>G | ENSP00000312304.4:n.494+51A>G | |
| NM_000367.3:c.494+51A>G | NP_000358.1:n.494+51A>G | |
| XM_011514839.1:c.494+51A>G | XP_011513141.1:n.494+51A>G | |
| XM_011514840.1:c.425+51A>G | XP_011513142.1:n.425+51A>G | |
| NM_000367.4:c.494+51A>G | NP_000358.1:n.494+51A>G | |
| NM_001346817.1:c.494+51A>G | NP_001333746.1:n.494+51A>G | |
| NM_001346818.1:c.494+51A>G | NP_001333747.1:n.494+51A>G | |
| NM_000367.5:c.494+51A>G MANE Select | NP_000358.1:n.494+51A>G |