Linked Data
dbSNP Id:
rs17228616
gnomAD v2:
7-100487721-G-T
gnomAD v3:
7-100890100-G-T
gnomAD v4:
7-100890100-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100890100G>T , CM000669.2:g.100890100G>T | GRCh38 |
| NC_000007.13:g.100487721G>T , CM000669.1:g.100487721G>T | GRCh37 |
| NC_000007.12:g.100325657G>T | NCBI36 |
| NG_007474.1:g.10821C>A | |
| NG_007474.2:g.11034C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241069.11:c.*114C>A MANE Select | ENSP00000241069.5:n.*114C>A | |
| ENST00000411582.4:c.*858C>A | ENSP00000404865.1:n.*858C>A | |
| ENST00000428317.7:c.*114C>A | ENSP00000414858.1:n.*114C>A | |
| ENST00000241069.9:c.*114C>A | ENSP00000241069.5:n.*114C>A | |
| ENST00000302913.8:c.*858C>A | ENSP00000303211.4:n.*858C>A | |
| ENST00000412389.5:c.*114C>A | ENSP00000394976.1:n.*114C>A | |
| ENST00000419336.6:c.*114C>A | ENSP00000403474.2:n.*114C>A | |
| ENST00000428317.5:c.*114C>A | ENSP00000414858.1:n.*114C>A | |
| NM_000665.4:c.*114C>A | NP_000656.1:n.*114C>A | |
| NM_001282449.1:c.*114C>A | NP_001269378.1:n.*114C>A | |
| NM_001302622.1:c.*114C>A | NP_001289551.1:n.*114C>A | |
| NM_015831.2:c.*858C>A | NP_056646.1:n.*858C>A | |
| XM_006715995.2:c.*858C>A | XP_006716058.1:n.*858C>A | |
| XM_011516225.1:c.*858C>A | XP_011514527.1:n.*858C>A | |
| XM_011516226.1:c.*858C>A | XP_011514528.1:n.*858C>A | |
| XM_011516227.1:c.*858C>A | XP_011514529.1:n.*858C>A | |
| XM_011516228.1:c.*858C>A | XP_011514530.1:n.*858C>A | |
| XM_011516229.1:c.*858C>A | XP_011514531.1:n.*858C>A | |
| XM_011516225.2:c.*858C>A | XP_011514527.1:n.*858C>A | |
| XM_011516226.2:c.*858C>A | XP_011514528.1:n.*858C>A | |
| XM_011516228.2:c.*858C>A | XP_011514530.1:n.*858C>A | |
| XM_011516229.2:c.*858C>A | XP_011514531.1:n.*858C>A | |
| XM_017012219.2:c.*114C>A | XP_016867708.1:n.*114C>A | |
| XM_017012220.2:c.*114C>A | XP_016867709.1:n.*114C>A | |
| XM_024446768.1:c.*858C>A | XP_024302536.1:n.*858C>A | |
| XM_024446769.1:c.*114C>A | XP_024302537.1:n.*114C>A | |
| XM_024446770.1:c.*114C>A | XP_024302538.1:n.*114C>A | |
| XR_001744773.2:n.3693C>A | ||
| XR_927465.3:n.2940C>A | ||
| NM_000665.5:c.*114C>A MANE Select | NP_000656.1:n.*114C>A | |
| NM_001282449.2:c.*114C>A | NP_001269378.1:n.*114C>A | |
| NM_001302622.2:c.*114C>A | NP_001289551.1:n.*114C>A | |
| NM_001367915.1:c.*114C>A | NP_001354844.1:n.*114C>A | |
| NM_001367917.1:c.*114C>A | NP_001354846.1:n.*114C>A | |
| NM_001367918.1:c.*114C>A | NP_001354847.1:n.*114C>A | |
| NM_001367919.1:c.*114C>A | NP_001354848.1:n.*114C>A | |
| NR_160407.1:n.1939C>A | ||
| NR_160408.1:n.1581C>A | ||
| NM_001302621.3:c.*858C>A | NP_001289550.1:n.*858C>A | |
| NM_001367919.2:c.*114C>A | NP_001354848.1:n.*114C>A | |
| NR_160408.2:n.1581C>A |