Linked Data
dbSNP Id:
rs1313017907
gnomAD v2:
2-128183881-G-T
gnomAD v3:
2-127426305-G-T
gnomAD v4:
2-127426305-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426305G>T , CM000664.2:g.127426305G>T | GRCh38 |
| NC_000002.11:g.128183881G>T , CM000664.1:g.128183881G>T | GRCh37 |
| NC_000002.10:g.127900351G>T | NCBI36 |
| NG_016323.1:g.12886G>T , LRG_599:g.12886G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.678+78G>T MANE Select | ENSP00000234071.4:n.678+78G>T | |
| ENST00000234071.7:c.678+78G>T | ENSP00000234071.3:n.678+78G>T | |
| ENST00000402125.2:c.121-2052G>T | ||
| ENST00000409048.1:c.780+78G>T | ENSP00000386679.1:n.780+78G>T | |
| ENST00000464089.1:n.342G>T | ||
| NM_000312.3:c.678+78G>T , LRG_599t1:c.678+78G>T | NP_000303.1:n.678+78G>T | |
| XM_005263715.3:c.861+78G>T | XP_005263772.1:n.861+78G>T | |
| XM_005263716.3:c.843+78G>T | XP_005263773.1:n.843+78G>T | |
| XM_005263717.3:c.741+78G>T | XP_005263774.1:n.741+78G>T | |
| XR_923313.1:n.1569C>A | ||
| XM_005263717.4:c.741+78G>T | XP_005263774.1:n.741+78G>T | |
| XM_017004505.1:c.921+78G>T | XP_016859994.1:n.921+78G>T | |
| XM_024453002.1:c.1023+78G>T | XP_024308770.1:n.1023+78G>T | |
| XM_024453003.1:c.963+78G>T | XP_024308771.1:n.963+78G>T | |
| XM_024453004.1:c.861+78G>T | XP_024308772.1:n.861+78G>T | |
| XM_024453005.1:c.843+78G>T | XP_024308773.1:n.843+78G>T | |
| XM_024453006.1:c.780+78G>T | XP_024308774.1:n.780+78G>T | |
| XR_923313.2:n.4280C>A | ||
| NM_000312.4:c.678+78G>T MANE Select | NP_000303.1:n.678+78G>T | |
| NM_001375602.1:c.861+78G>T | NP_001362531.1:n.861+78G>T | |
| NM_001375603.1:c.843+78G>T | NP_001362532.1:n.843+78G>T | |
| NM_001375604.1:c.741+78G>T | NP_001362533.1:n.741+78G>T | |
| NM_001375605.1:c.780+78G>T | NP_001362534.1:n.780+78G>T | |
| NM_001375606.1:c.846+78G>T | NP_001362535.1:n.846+78G>T | |
| NM_001375607.1:c.864+78G>T | NP_001362536.1:n.864+78G>T | |
| NM_001375608.1:c.621+78G>T | NP_001362537.1:n.621+78G>T | |
| NM_001375609.1:c.654+78G>T | NP_001362538.1:n.654+78G>T | |
| NM_001375610.1:c.672+78G>T | NP_001362539.1:n.672+78G>T | |
| NM_001375611.1:c.678+78G>T | NP_001362540.1:n.678+78G>T | |
| NM_001375613.1:c.678+78G>T | NP_001362542.1:n.678+78G>T |