Linked Data
dbSNP Id:
rs368692582
ExAC:
7:87041399 C / T
gnomAD v2:
7-87041399-C-T
gnomAD v3:
7-87412083-C-T
gnomAD v4:
7-87412083-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87412083C>T , CM000669.2:g.87412083C>T | GRCh38 |
| NC_000007.13:g.87041399C>T , CM000669.1:g.87041399C>T | GRCh37 |
| NC_000007.12:g.86879335C>T | NCBI36 |
| NG_007118.1:g.73350G>A | |
| NG_007118.2:g.73350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.2784-50G>A | ENSP00000352135.3:n.2784-50G>A | |
| ENST00000649586.2:c.2784-50G>A MANE Select | ENSP00000496956.2:n.2784-50G>A | |
| ENST00000265723.8:c.2784-50G>A | ENSP00000265723.4:n.2784-50G>A | |
| ENST00000358400.7:c.2783+1534G>A | ENSP00000351172.3:n.2783+1534G>A | |
| ENST00000359206.7:c.2784-50G>A | ENSP00000352135.3:n.2784-50G>A | |
| ENST00000453593.5:c.2783+1534G>A | ENSP00000392983.1:n.2783+1534G>A | |
| NM_000443.3:c.2784-50G>A | NP_000434.1:n.2784-50G>A | |
| NM_018849.2:c.2784-50G>A | NP_061337.1:n.2784-50G>A | |
| NM_018850.2:c.2783+1534G>A | NP_061338.1:n.2783+1534G>A | |
| XM_011516308.1:c.2784-50G>A | XP_011514610.1:n.2784-50G>A | |
| XM_011516309.1:c.2784-50G>A | XP_011514611.1:n.2784-50G>A | |
| XM_011516310.1:c.2679-50G>A | XP_011514612.1:n.2679-50G>A | |
| XM_011516311.1:c.2784-179G>A | XP_011514613.1:n.2784-179G>A | |
| XM_011516312.1:c.2783+1534G>A | XP_011514614.1:n.2783+1534G>A | |
| XM_011516313.1:c.2783+1534G>A | XP_011514615.1:n.2783+1534G>A | |
| XM_011516314.1:c.2805-50G>A | XP_011514616.1:n.2805-50G>A | |
| XM_011516315.1:c.2124-50G>A | XP_011514617.1:n.2124-50G>A | |
| XR_927478.1:n.2779-2691G>A | ||
| XM_011516308.3:c.3054-50G>A | XP_011514610.3:n.3054-50G>A | |
| XM_011516309.3:c.3054-50G>A | XP_011514611.3:n.3054-50G>A | |
| XM_011516310.3:c.2949-50G>A | XP_011514612.3:n.2949-50G>A | |
| XM_011516311.3:c.3054-179G>A | XP_011514613.3:n.3054-179G>A | |
| XM_011516312.3:c.3053+1534G>A | XP_011514614.3:n.3053+1534G>A | |
| XM_011516313.3:c.3053+1534G>A | XP_011514615.2:n.3053+1534G>A | |
| XM_011516315.3:c.2124-50G>A | XP_011514617.2:n.2124-50G>A | |
| XM_017012323.2:c.2784-50G>A | XP_016867812.1:n.2784-50G>A | |
| XR_001744809.2:n.3454-2691G>A | ||
| NM_000443.4:c.2784-50G>A MANE Select | NP_000434.1:n.2784-50G>A | |
| NM_018849.3:c.2784-50G>A | NP_061337.1:n.2784-50G>A | |
| NM_018850.3:c.2783+1534G>A | NP_061338.1:n.2783+1534G>A |