Linked Data
dbSNP Id:
rs1302342999
gnomAD v2:
12-125261416-T-C
gnomAD v3:
12-124776870-T-C
gnomAD v4:
12-124776870-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124776870T>C , CM000674.2:g.124776870T>C | GRCh38 |
| NC_000012.11:g.125261416T>C , CM000674.1:g.125261416T>C | GRCh37 |
| NC_000012.10:g.123827369T>C | NCBI36 |
| NG_028199.1:g.92104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261693.11:c.*1717A>G MANE Select | ENSP00000261693.6:n.*1717A>G | |
| ENST00000339570.9:c.*1597A>G | ENSP00000343795.4:n.*1597A>G | |
| NM_005505.5:c.*1717A>G MANE Select | NP_005496.4:n.*1717A>G | |
| NM_001082959.2:c.*1597A>G | NP_001076428.1:n.*1597A>G | |
| NM_001367981.1:c.*1709A>G | NP_001354910.1:n.*1709A>G | |
| NM_001367983.1:c.*1717A>G | NP_001354912.1:n.*1717A>G | |
| NM_001367984.1:c.*1717A>G | NP_001354913.1:n.*1717A>G | |
| NM_001367985.1:c.*1717A>G | NP_001354914.1:n.*1717A>G | |
| NM_001367986.1:c.*1717A>G | NP_001354915.1:n.*1717A>G | |
| NM_001367987.1:c.*1597A>G | NP_001354916.1:n.*1597A>G | |
| NM_001367988.1:c.*1717A>G | NP_001354917.1:n.*1717A>G | |
| NM_001367989.1:c.*1728A>G | NP_001354918.1:n.*1728A>G | |
| NR_160416.1:n.3392A>G | ||
| NR_160417.1:n.3494A>G | ||
| NR_160418.1:n.2953A>G | ||
| NR_160419.1:n.3317A>G | ||
| NR_160420.1:n.3146A>G | ||
| NR_160421.1:n.3069A>G | ||
| NR_160422.1:n.3275A>G | ||
| NR_160423.1:n.3272A>G | ||
| NR_160424.1:n.3257A>G |