Linked Data
ClinVar Variation Id:
957287
ClinVar RCV Id:
RCV001230240
dbSNP Id:
rs782590600
ExAC:
7:130038800 C / T
gnomAD v2:
7-130038800-C-T
gnomAD v3:
7-130398959-C-T
gnomAD v4:
7-130398959-C-T
COSMIC:
COSM3411587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130398959C>T , CM000669.2:g.130398959C>T | GRCh38 |
| NC_000007.13:g.130038800C>T , CM000669.1:g.130038800C>T | GRCh37 |
| NC_000007.12:g.129826036C>T | NCBI36 |
| NG_032164.1:g.47252G>A | |
| NG_032164.2:g.47252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.1054G>A MANE Select | ENSP00000223208.4:p.Gly352Ser | |
| ENST00000343969.10:c.847G>A | ENSP00000342738.6:p.Gly283Ser | |
| ENST00000480206.2:c.*1566G>A | ENSP00000502099.1:n.*1566G>A | |
| ENST00000484549.6:c.*1226G>A | ENSP00000419078.2:n.*1226G>A | |
| ENST00000492389.6:c.858G>A | ENSP00000419192.2:n.858G>A | |
| ENST00000541543.6:c.1045G>A | ENSP00000445888.2:p.Gly349Ser | |
| ENST00000674539.1:c.*62G>A | ENSP00000502834.1:n.*62G>A | |
| ENST00000674630.1:c.*600G>A | ENSP00000502521.1:n.*600G>A | |
| ENST00000675138.1:c.1099G>A | ENSP00000501597.1:p.Gly367Ser | |
| ENST00000675168.1:c.1006G>A | ENSP00000501563.1:p.Gly336Ser | |
| ENST00000675328.1:n.864G>A | ||
| ENST00000675542.1:n.1019G>A | ||
| ENST00000675563.1:c.445G>A | ENSP00000502483.1:p.Gly149Ser | |
| ENST00000675596.1:c.838G>A | ENSP00000501735.1:p.Gly280Ser | |
| ENST00000675649.1:c.871G>A | ENSP00000502385.1:p.Gly291Ser | |
| ENST00000675721.1:c.*997G>A | ENSP00000502026.1:n.*997G>A | |
| ENST00000675803.1:c.1015G>A | ENSP00000502477.1:p.Gly339Ser | |
| ENST00000675813.1:c.*958G>A | ENSP00000502785.1:n.*958G>A | |
| ENST00000675935.1:c.1045G>A | ENSP00000501731.1:p.Gly349Ser | |
| ENST00000675962.1:c.790G>A | ENSP00000502478.1:p.Gly264Ser | |
| ENST00000676115.1:c.*975G>A | ENSP00000502631.1:n.*975G>A | |
| ENST00000676243.1:c.1063G>A | ENSP00000501717.1:p.Gly355Ser | |
| ENST00000676312.1:c.1015G>A | ENSP00000502312.1:p.Gly339Ser | |
| ENST00000223208.9:c.1054G>A | ENSP00000223208.4:p.Gly352Ser | |
| ENST00000343969.9:c.838G>A | ENSP00000342738.5:p.Gly280Ser | |
| ENST00000484549.5:c.*600G>A | ENSP00000419078.1:n.*600G>A | |
| ENST00000485736.5:n.737G>A | ||
| ENST00000541543.5:c.790G>A | ENSP00000445888.1:p.Gly264Ser | |
| ENST00000603513.1:n.2251G>A | ||
| NM_001257158.1:c.838G>A | NP_001244087.1:p.Gly280Ser | |
| NM_001257159.1:c.790G>A | NP_001244088.1:p.Gly264Ser | |
| NM_018718.2:c.1054G>A | NP_061188.1:p.Gly352Ser | |
| NR_046443.1:n.1222G>A | ||
| XM_011516708.1:c.1099G>A | XP_011515010.1:p.Gly367Ser | |
| XM_011516709.1:c.949G>A | XP_011515011.1:p.Gly317Ser | |
| XM_011516710.1:c.949G>A | XP_011515012.1:p.Gly317Ser | |
| XM_011516711.1:c.949G>A | XP_011515013.1:p.Gly317Ser | |
| XM_011516712.1:c.883G>A | XP_011515014.1:p.Gly295Ser | |
| XM_011516709.3:c.949G>A | XP_011515011.1:p.Gly317Ser | |
| XM_011516710.3:c.949G>A | XP_011515012.1:p.Gly317Ser | |
| XM_024447004.1:c.1015G>A | XP_024302772.1:p.Gly339Ser | |
| NM_018718.3:c.1054G>A MANE Select | NP_061188.1:p.Gly352Ser | |
| NM_001257158.2:c.838G>A | NP_001244087.1:p.Gly280Ser | |
| NR_046443.2:n.1028G>A | ||
| NM_001257159.2:c.790G>A | NP_001244088.1:p.Gly264Ser |