Linked Data
dbSNP Id:
rs138901970
gnomAD v2:
12-10170649-A-T
gnomAD v3:
12-10018050-A-T
gnomAD v4:
12-10018050-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10018050A>T , CM000674.2:g.10018050A>T | GRCh38 |
| NC_000012.11:g.10170649A>T , CM000674.1:g.10170649A>T | GRCh37 |
| NC_000012.10:g.10061916A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338896.11:c.681-281A>T MANE Select | ENSP00000344563.5:n.681-281A>T | |
| ENST00000338896.10:c.681-281A>T | ENSP00000344563.5:n.681-281A>T | |
| ENST00000338896.9:c.681-281A>T | ENSP00000344563.5:n.681-281A>T | |
| ENST00000544853.5:c.*129-281A>T | ENSP00000439561.1:n.*129-281A>T | |
| NM_001129998.1:c.681-281A>T | NP_001123470.1:n.681-281A>T | |
| NR_120484.1:n.249-2277T>A | ||
| XM_006719070.2:c.681-368A>T | XP_006719133.1:n.681-368A>T | |
| XM_006719071.2:c.*3-281A>T | XP_006719134.1:n.*3-281A>T | |
| XM_011520658.1:c.654-281A>T | XP_011518960.1:n.654-281A>T | |
| XM_011520661.1:c.*10-281A>T | XP_011518963.1:n.*10-281A>T | |
| XM_011520663.1:c.526-281A>T | XP_011518965.1:n.526-281A>T | |
| XM_011520664.1:c.526-368A>T | XP_011518966.1:n.526-368A>T | |
| XR_242889.3:n.956-281A>T | ||
| NM_001129998.2:c.681-281A>T | NP_001123470.1:n.681-281A>T | |
| NM_001319241.1:c.372-281A>T | NP_001306170.1:n.372-281A>T | |
| NR_135049.1:n.961-281A>T | ||
| XM_011520658.2:c.654-281A>T | XP_011518960.1:n.654-281A>T | |
| XM_011520663.2:c.526-281A>T | XP_011518965.1:n.526-281A>T | |
| XM_017019295.1:c.372-281A>T | XP_016874784.1:n.372-281A>T | |
| XM_024448976.1:c.681-368A>T | XP_024304744.1:n.681-368A>T | |
| XR_002957401.1:n.106-1902T>A | ||
| NM_001129998.3:c.681-281A>T MANE Select | NP_001123470.1:n.681-281A>T | |
| NM_001387138.1:c.681-368A>T | NP_001374067.1:n.681-368A>T | |
| NR_169587.1:n.258-1902T>A |