Linked Data
dbSNP Id:
rs759726438
ExAC:
1:161276751 G / A
gnomAD v2:
1-161276751-G-A
gnomAD v3:
1-161306961-G-A
gnomAD v4:
1-161306961-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306961G>A , CM000663.2:g.161306961G>A | GRCh38 |
| NC_000001.10:g.161276751G>A , CM000663.1:g.161276751G>A | GRCh37 |
| NC_000001.9:g.159543375G>A | NCBI36 |
| NG_008055.1:g.8012C>T , LRG_256:g.8012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.235-40C>T | ENSP00000488104.2:n.235-40C>T | |
| ENST00000533357.5:c.235-40C>T MANE Select | ENSP00000432943.1:n.235-40C>T | |
| ENST00000672287.2:c.-354-40C>T | ENSP00000499818.2:n.-354-40C>T | |
| ENST00000672602.2:c.235-40C>T | ENSP00000500814.2:n.235-40C>T | |
| ENST00000674861.1:n.298-40C>T | ||
| ENST00000463290.5:c.235-40C>T | ENSP00000431538.1:n.235-40C>T | |
| ENST00000491222.5:c.-354-40C>T | ENSP00000431441.1:n.-354-40C>T | |
| ENST00000533357.4:c.235-40C>T | ENSP00000432943.1:n.235-40C>T | |
| NM_000530.6:c.235-40C>T , LRG_256t1:c.235-40C>T | NP_000521.2:n.235-40C>T | |
| NM_000530.7:c.235-40C>T | NP_000521.2:n.235-40C>T | |
| NM_001315491.1:c.235-40C>T | NP_001302420.1:n.235-40C>T | |
| XM_017001321.2:c.265-40C>T | XP_016856810.1:n.265-40C>T | |
| NM_000530.8:c.235-40C>T MANE Select | NP_000521.2:n.235-40C>T | |
| NM_001315491.2:c.235-40C>T | NP_001302420.1:n.235-40C>T |