Linked Data
dbSNP Id:
rs1133043
ExAC:
7:1133305 C / G
gnomAD v2:
7-1133305-C-G
gnomAD v3:
7-1093669-C-G
gnomAD v4:
7-1093669-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1093669C>G , CM000669.2:g.1093669C>G | GRCh38 |
| NC_000007.13:g.1133305C>G , CM000669.1:g.1133305C>G | GRCh37 |
| NC_000007.12:g.1099831C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397088.4:c.*813C>G (GPER1) MANE Select | ENSP00000380277.3:n.*813C>G | |
| ENST00000397098.8:c.129+33588G>C (C7orf50) MANE Select | ENSP00000380286.3:n.129+33588G>C | |
| ENST00000297469.3:c.*813C>G (GPER1) | ENSP00000297469.3:n.*813C>G | |
| ENST00000357429.10:c.129+33588G>C (C7orf50) | ENSP00000350011.5:n.129+33588G>C | |
| ENST00000397088.3:c.*813C>G (GPER1) | ENSP00000380277.3:n.*813C>G | |
| ENST00000397092.5:c.*813C>G (GPER1) | ENSP00000380281.1:n.*813C>G | |
| ENST00000397098.7:c.129+33588G>C (C7orf50) | ENSP00000380286.3:n.129+33588G>C | |
| ENST00000397100.6:c.129+33588G>C (C7orf50) | ENSP00000380288.2:n.129+33588G>C | |
| ENST00000488073.1:n.266+15659G>C (C7orf50) | ||
| ENST00000491163.1:c.129+33588G>C (C7orf50) | ENSP00000420130.1:n.129+33588G>C | |
| ENST00000617001.1:c.*432C>G (GPER1) | ENSP00000479553.1:n.*432C>G | |
| ENST00000619052.1:c.499C>G (GPER1) | ENSP00000483756.1:p.Leu167Val | |
| NM_001039966.1:c.*813C>G (GPER1) | NP_001035055.1:n.*813C>G | |
| NM_001098201.1:c.*813C>G (GPER1) | NP_001091671.1:n.*813C>G | |
| NM_001134395.1:c.129+33588G>C (C7orf50) | NP_001127867.1:n.129+33588G>C | |
| NM_001134396.1:c.129+33588G>C (C7orf50) | NP_001127868.1:n.129+33588G>C | |
| NM_001505.2:c.*813C>G (GPER1) | NP_001496.1:n.*813C>G | |
| NM_032350.5:c.129+33588G>C (C7orf50) | NP_115726.1:n.129+33588G>C | |
| XM_005249888.3:c.129+33588G>C (C7orf50) | XP_005249945.1:n.129+33588G>C | |
| XM_011515581.1:c.129+33588G>C (C7orf50) | XP_011513883.1:n.129+33588G>C | |
| XM_011515582.1:c.129+33588G>C (C7orf50) | XP_011513884.1:n.129+33588G>C | |
| XM_011515583.1:c.129+33588G>C (C7orf50) | XP_011513885.1:n.129+33588G>C | |
| XM_011515584.1:c.129+33588G>C (C7orf50) | XP_011513886.1:n.129+33588G>C | |
| NM_001098201.2:c.*813C>G (GPER1) | NP_001091671.1:n.*813C>G | |
| NM_001318252.1:c.129+33588G>C (C7orf50) | NP_001305181.1:n.129+33588G>C | |
| NM_001350968.1:c.129+33588G>C (C7orf50) | NP_001337897.1:n.129+33588G>C | |
| XM_011515581.3:c.129+33588G>C (C7orf50) | XP_011513883.1:n.129+33588G>C | |
| XM_011515582.3:c.129+33588G>C (C7orf50) | XP_011513884.1:n.129+33588G>C | |
| XM_011515583.2:c.129+33588G>C (C7orf50) | XP_011513885.1:n.129+33588G>C | |
| XM_011515584.2:c.129+33588G>C (C7orf50) | XP_011513886.1:n.129+33588G>C | |
| XM_017012720.2:c.129+33588G>C (C7orf50) | XP_016868209.1:n.129+33588G>C | |
| XM_017012721.2:c.-145+33588G>C (C7orf50) | XP_016868210.1:n.-145+33588G>C | |
| XM_024446977.1:c.129+33588G>C (C7orf50) | XP_024302745.1:n.129+33588G>C | |
| XM_024446978.1:c.-145+33588G>C (C7orf50) | XP_024302746.1:n.-145+33588G>C | |
| NM_001098201.3:c.*813C>G (GPER1) MANE Select | NP_001091671.1:n.*813C>G | |
| NM_001318252.2:c.129+33588G>C (C7orf50) MANE Select | NP_001305181.1:n.129+33588G>C | |
| NM_001505.3:c.*813C>G (GPER1) | NP_001496.1:n.*813C>G | |
| NM_001039966.2:c.*813C>G (GPER1) | NP_001035055.1:n.*813C>G |