Linked Data
dbSNP Id:
rs2116406155
gnomAD v4:
7-87411955-A-C
MyVariant Identifiers:
chr7:g.87041271A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87411955A>C , CM000669.2:g.87411955A>C | GRCh38 |
| NC_000007.13:g.87041271A>C , CM000669.1:g.87041271A>C | GRCh37 |
| NC_000007.12:g.86879207A>C | NCBI36 |
| NG_007118.1:g.73478T>G | |
| NG_007118.2:g.73478T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359206.8:c.2862T>G | ENSP00000352135.3:p.Gly954= | |
| ENST00000649586.2:c.2862T>G MANE Select | ENSP00000496956.2:p.Gly954= | |
| ENST00000265723.8:c.2862T>G | ENSP00000265723.4:p.Gly954= | |
| ENST00000358400.7:c.2783+1662T>G | ENSP00000351172.3:n.2783+1662T>G | |
| ENST00000359206.7:c.2862T>G | ENSP00000352135.3:p.Gly954= | |
| ENST00000453593.5:c.2783+1662T>G | ENSP00000392983.1:n.2783+1662T>G | |
| NM_000443.3:c.2862T>G | NP_000434.1:p.Gly954= | |
| NM_018849.2:c.2862T>G | NP_061337.1:p.Gly954= | |
| NM_018850.2:c.2783+1662T>G | NP_061338.1:n.2783+1662T>G | |
| XM_011516308.1:c.2862T>G | XP_011514610.1:p.Gly954= | |
| XM_011516309.1:c.2862T>G | XP_011514611.1:p.Gly954= | |
| XM_011516310.1:c.2757T>G | XP_011514612.1:p.Gly919= | |
| XM_011516311.1:c.2784-51T>G | XP_011514613.1:n.2784-51T>G | |
| XM_011516312.1:c.2783+1662T>G | XP_011514614.1:n.2783+1662T>G | |
| XM_011516313.1:c.2783+1662T>G | XP_011514615.1:n.2783+1662T>G | |
| XM_011516314.1:c.2883T>G | XP_011514616.1:p.Gly961= | |
| XM_011516315.1:c.2202T>G | XP_011514617.1:p.Gly734= | |
| XR_927478.1:n.2779-2563T>G | ||
| XM_011516308.3:c.3132T>G | XP_011514610.3:p.Gly1044= | |
| XM_011516309.3:c.3132T>G | XP_011514611.3:p.Gly1044= | |
| XM_011516310.3:c.3027T>G | XP_011514612.3:p.Gly1009= | |
| XM_011516311.3:c.3054-51T>G | XP_011514613.3:n.3054-51T>G | |
| XM_011516312.3:c.3053+1662T>G | XP_011514614.3:n.3053+1662T>G | |
| XM_011516313.3:c.3053+1662T>G | XP_011514615.2:n.3053+1662T>G | |
| XM_011516315.3:c.2202T>G | XP_011514617.2:p.Gly734= | |
| XM_017012323.2:c.2862T>G | XP_016867812.1:p.Gly954= | |
| XR_001744809.2:n.3454-2563T>G | ||
| NM_000443.4:c.2862T>G MANE Select | NP_000434.1:p.Gly954= | |
| NM_018849.3:c.2862T>G | NP_061337.1:p.Gly954= | |
| NM_018850.3:c.2783+1662T>G | NP_061338.1:n.2783+1662T>G |