Linked Data
dbSNP Id:
rs370772065
ExAC:
1:41285148 C / T
gnomAD v2:
1-41285148-C-T
gnomAD v4:
1-40819476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819476C>T , CM000663.2:g.40819476C>T | GRCh38 |
| NC_000001.10:g.41285148C>T , CM000663.1:g.41285148C>T | GRCh37 |
| NC_000001.9:g.41057735C>T | NCBI36 |
| NG_008139.1:g.40465C>T | |
| NG_008139.2:g.40465C>T | |
| NG_008139.3:g.40690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.834+4C>T MANE Select | ENSP00000262916.6:n.834+4C>T | |
| ENST00000347132.9:c.834+4C>T | ENSP00000262916.6:n.834+4C>T | |
| ENST00000443478.3:c.520+4C>T | ||
| ENST00000506017.1:n.153+4C>T | ||
| ENST00000509682.6:c.834+4C>T | ENSP00000423756.2:n.834+4C>T | |
| NM_004700.3:c.834+4C>T | NP_004691.2:n.834+4C>T | |
| NM_172163.2:c.834+4C>T | NP_751895.1:n.834+4C>T | |
| XM_011542417.1:c.834+4C>T | XP_011540719.1:n.834+4C>T | |
| XM_011542418.1:c.834+4C>T | XP_011540720.1:n.834+4C>T | |
| XM_011542419.1:c.834+4C>T | XP_011540721.1:n.834+4C>T | |
| XM_011542420.1:c.834+4C>T | XP_011540722.1:n.834+4C>T | |
| XR_946798.1:n.840+4C>T | ||
| XR_946799.1:n.840+4C>T | ||
| XR_946800.1:n.840+4C>T | ||
| XM_017002792.1:c.-184+4C>T | XP_016858281.1:n.-184+4C>T | |
| NM_004700.4:c.834+4C>T MANE Select | NP_004691.2:n.834+4C>T | |
| NM_172163.3:c.834+4C>T | NP_751895.1:n.834+4C>T |