Linked Data
dbSNP Id:
rs369942870
gnomAD v2:
6-18130876-A-C
gnomAD v3:
6-18130645-A-C
gnomAD v4:
6-18130645-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130645A>C , CM000668.2:g.18130645A>C | GRCh38 |
| NC_000006.11:g.18130876A>C , CM000668.1:g.18130876A>C | GRCh37 |
| NC_000006.10:g.18238855A>C | NCBI36 |
| NG_012137.2:g.29499T>G | |
| NG_012137.3:g.29499T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.*23T>G MANE Select | ENSP00000312304.4:n.*23T>G | |
| ENST00000309983.4:c.*23T>G | ENSP00000312304.4:n.*23T>G | |
| NM_000367.3:c.*23T>G | NP_000358.1:n.*23T>G | |
| XM_011514839.1:c.*23T>G | XP_011513141.1:n.*23T>G | |
| XM_011514840.1:c.*23T>G | XP_011513142.1:n.*23T>G | |
| NM_000367.4:c.*23T>G | NP_000358.1:n.*23T>G | |
| NM_001346817.1:c.*23T>G | NP_001333746.1:n.*23T>G | |
| NM_001346818.1:c.*23T>G | NP_001333747.1:n.*23T>G | |
| NM_000367.5:c.*23T>G MANE Select | NP_000358.1:n.*23T>G |