Linked Data
dbSNP Id:
rs765134374
ExAC:
7:150647543 C / G
gnomAD v2:
7-150647543-C-G
gnomAD v3:
7-150950455-C-G
gnomAD v4:
7-150950455-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950455C>G , CM000669.2:g.150950455C>G | GRCh38 |
| NC_000007.13:g.150647543C>G , CM000669.1:g.150647543C>G | GRCh37 |
| NC_000007.12:g.150278476C>G | NCBI36 |
| NG_008916.1:g.32472G>C , LRG_288:g.32472G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1444-35G>C | ||
| ENST00000684241.1:n.2979-35G>C | ||
| ENST00000262186.10:c.2146-35G>C MANE Select | ENSP00000262186.5:n.2146-35G>C | |
| ENST00000330883.9:c.1126-35G>C | ENSP00000328531.4:n.1126-35G>C | |
| ENST00000262186.9:c.2146-35G>C | ENSP00000262186.5:n.2146-35G>C | |
| ENST00000330883.8:c.1126-35G>C | ENSP00000328531.4:n.1126-35G>C | |
| ENST00000430723.4:c.1798-35G>C | ENSP00000387657.4:n.1798-35G>C | |
| ENST00000461280.1:n.1433-35G>C | ||
| ENST00000473610.5:n.1778-35G>C | ||
| ENST00000532957.5:n.2369-35G>C | ||
| NM_000238.3:c.2146-35G>C , LRG_288t1:c.2146-35G>C | NP_000229.1:n.2146-35G>C | |
| NM_001204798.1:c.1126-35G>C | NP_001191727.1:n.1126-35G>C | |
| NM_172056.2:c.2146-35G>C , LRG_288t2:c.2146-35G>C | NP_742053.1:n.2146-35G>C | |
| NM_172057.2:c.1126-35G>C , LRG_288t3:c.1126-35G>C | NP_742054.1:n.1126-35G>C | |
| XM_011516185.1:c.1846-35G>C | XP_011514487.1:n.1846-35G>C | |
| XM_011516186.1:c.2146-35G>C | XP_011514488.1:n.2146-35G>C | |
| XM_011516185.2:c.1846-35G>C | XP_011514487.1:n.1846-35G>C | |
| XM_011516186.3:c.2146-35G>C | XP_011514488.1:n.2146-35G>C | |
| XM_017012195.1:c.1996-35G>C | XP_016867684.1:n.1996-35G>C | |
| XM_017012196.1:c.1969-35G>C | XP_016867685.1:n.1969-35G>C | |
| NM_000238.4:c.2146-35G>C MANE Select | NP_000229.1:n.2146-35G>C | |
| NM_001204798.2:c.1126-35G>C | NP_001191727.1:n.1126-35G>C | |
| NM_172057.3:c.1126-35G>C | NP_742054.1:n.1126-35G>C |