Linked Data
dbSNP Id:
rs782215475
gnomAD v2:
7-73442450-C-G
gnomAD v3:
7-74028120-C-G
gnomAD v4:
7-74028120-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74028120C>G , CM000669.2:g.74028120C>G | GRCh38 |
| NC_000007.13:g.73442450C>G , CM000669.1:g.73442450C>G | GRCh37 |
| NC_000007.12:g.73080386C>G | NCBI36 |
| NG_009261.1:g.5024C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252034.11:c.-68C>G | ENSP00000252034.7:n.-68C>G | |
| ENST00000320492.11:c.-68C>G | ENSP00000315607.7:n.-68C>G | |
| ENST00000358929.8:c.-68C>G | ENSP00000351807.5:n.-68C>G | |
| ENST00000431562.5:c.-68C>G | ENSP00000394549.1:n.-68C>G | |
| ENST00000438906.5:c.-68C>G | ENSP00000406949.1:n.-68C>G | |
| ENST00000445912.5:c.-68C>G | ENSP00000389857.1:n.-68C>G | |
| ENST00000494160.5:n.7C>G | ||
| ENST00000621115.4:c.-68C>G | ENSP00000480955.1:n.-68C>G | |
| NM_000501.3:c.-68C>G | NP_000492.2:n.-68C>G | |
| NM_001081752.2:c.-68C>G | NP_001075221.1:n.-68C>G | |
| NM_001081753.2:c.-68C>G | NP_001075222.1:n.-68C>G | |
| NM_001081754.2:c.-68C>G | NP_001075223.1:n.-68C>G | |
| NM_001081755.2:c.-68C>G | NP_001075224.1:n.-68C>G | |
| NM_001278912.1:c.-68C>G | NP_001265841.1:n.-68C>G | |
| NM_001278913.1:c.-68C>G | NP_001265842.1:n.-68C>G | |
| NM_001278914.1:c.-68C>G | NP_001265843.1:n.-68C>G | |
| NM_001278915.1:c.-68C>G | NP_001265844.1:n.-68C>G | |
| NM_001278916.1:c.-68C>G | NP_001265845.1:n.-68C>G | |
| NM_001278917.1:c.-68C>G | NP_001265846.1:n.-68C>G | |
| NM_001278918.1:c.-68C>G | NP_001265847.1:n.-68C>G | |
| NM_001278939.1:c.-68C>G | NP_001265868.1:n.-68C>G | |
| XM_005250187.1:c.-68C>G | XP_005250244.1:n.-68C>G | |
| XM_005250188.1:c.-68C>G | XP_005250245.1:n.-68C>G | |
| XM_011515868.1:c.-68C>G | XP_011514170.1:n.-68C>G | |
| XM_011515870.1:c.-68C>G | XP_011514172.1:n.-68C>G | |
| XM_011515871.1:c.-68C>G | XP_011514173.1:n.-68C>G | |
| XM_011515872.1:c.-68C>G | XP_011514174.1:n.-68C>G | |
| XM_011515873.1:c.-68C>G | XP_011514175.1:n.-68C>G | |
| XM_011515874.1:c.-68C>G | XP_011514176.1:n.-68C>G | |
| XM_011515875.1:c.-68C>G | XP_011514177.1:n.-68C>G | |
| XM_011515876.1:c.-68C>G | XP_011514178.1:n.-68C>G | |
| XM_011515877.1:c.-68C>G | XP_011514179.1:n.-68C>G | |
| XM_011515868.2:c.-68C>G | XP_011514170.1:n.-68C>G | |
| XM_011515871.2:c.-68C>G | XP_011514173.1:n.-68C>G | |
| XM_011515872.2:c.-68C>G | XP_011514174.1:n.-68C>G | |
| XM_011515873.2:c.-68C>G | XP_011514175.1:n.-68C>G | |
| XM_011515875.2:c.-68C>G | XP_011514177.1:n.-68C>G | |
| XM_011515876.2:c.-68C>G | XP_011514178.1:n.-68C>G | |
| XM_011515877.2:c.-68C>G | XP_011514179.1:n.-68C>G | |
| XM_017011814.2:c.-68C>G | XP_016867303.1:n.-68C>G |