Linked Data
dbSNP Id:
rs3752228
gnomAD v2:
19-1041164-C-T
gnomAD v3:
19-1041165-C-T
gnomAD v4:
19-1041165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1041165C>T , CM000681.2:g.1041165C>T | GRCh38 |
| NC_000019.9:g.1041164C>T , CM000681.1:g.1041164C>T | GRCh37 |
| NC_000019.8:g.992164C>T | NCBI36 |
| NG_046909.1:g.6063C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263094.11:c.-137-60C>T MANE Select | ENSP00000263094.6:n.-137-60C>T | |
| ENST00000433129.6:n.201-60C>T | ||
| ENST00000263094.10:c.-137-60C>T | ENSP00000263094.6:n.-137-60C>T | |
| ENST00000524850.5:c.-7-190C>T | ENSP00000431473.1:n.-7-190C>T | |
| ENST00000525238.2:n.80-60C>T | ||
| ENST00000526885.5:n.95-60C>T | ||
| ENST00000530703.1:n.82-60C>T | ||
| ENST00000611490.4:c.-137-60C>T | ENSP00000478857.1:n.-137-60C>T | |
| NM_019112.3:c.-137-60C>T | NP_061985.2:n.-137-60C>T | |
| XM_006722616.1:c.-137-60C>T | XP_006722679.1:n.-137-60C>T | |
| XM_006722617.2:c.-137-60C>T | XP_006722680.1:n.-137-60C>T | |
| XM_011527628.1:c.-7-190C>T | XP_011525930.1:n.-7-190C>T | |
| XM_011527629.1:c.-137-60C>T | XP_011525931.1:n.-137-60C>T | |
| XM_011527630.1:c.-137-60C>T | XP_011525932.1:n.-137-60C>T | |
| XM_011527631.1:c.-137-60C>T | XP_011525933.1:n.-137-60C>T | |
| XM_011527633.1:c.-137-60C>T | XP_011525935.1:n.-137-60C>T | |
| XM_011527634.1:c.-137-60C>T | XP_011525936.1:n.-137-60C>T | |
| XM_011527635.1:c.-137-60C>T | XP_011525937.1:n.-137-60C>T | |
| XR_936148.1:n.82-60C>T | ||
| XR_936149.1:n.82-60C>T | ||
| XR_936150.1:n.82-60C>T | ||
| XR_936151.1:n.82-60C>T | ||
| XR_936152.1:n.82-60C>T | ||
| XR_936153.1:n.82-60C>T | ||
| XR_936154.1:n.82-60C>T | ||
| XR_936155.1:n.82-60C>T | ||
| XM_011527633.2:c.-137-60C>T | XP_011525935.1:n.-137-60C>T | |
| XM_017026143.1:c.-137-60C>T | XP_016881632.1:n.-137-60C>T | |
| XM_024451315.1:c.-137-60C>T | XP_024307083.1:n.-137-60C>T | |
| XM_024451316.1:c.-7-190C>T | XP_024307084.1:n.-7-190C>T | |
| XM_024451317.1:c.-137-60C>T | XP_024307085.1:n.-137-60C>T | |
| XM_024451318.1:c.-137-60C>T | XP_024307086.1:n.-137-60C>T | |
| XM_024451319.1:c.-137-60C>T | XP_024307087.1:n.-137-60C>T | |
| XM_024451320.1:c.-137-60C>T | XP_024307088.1:n.-137-60C>T | |
| XM_024451321.1:c.-137-60C>T | XP_024307089.1:n.-137-60C>T | |
| XM_024451323.1:c.-137-60C>T | XP_024307091.1:n.-137-60C>T | |
| XR_001753585.1:n.82-60C>T | ||
| XR_001753586.1:n.82-60C>T | ||
| XR_002958240.1:n.82-60C>T | ||
| XR_002958241.1:n.82-60C>T | ||
| XR_002958242.1:n.82-60C>T | ||
| NM_019112.4:c.-137-60C>T MANE Select | NP_061985.2:n.-137-60C>T |