Linked Data
ClinVar Variation Id:
317093
ClinVar RCV Id:
RCV000290516
dbSNP Id:
rs775309731
ExAC:
15:74472433 A / G
gnomAD v2:
15-74472433-A-G
gnomAD v3:
15-74180092-A-G
gnomAD v4:
15-74180092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74180092A>G , CM000677.2:g.74180092A>G | GRCh38 |
| NC_000015.9:g.74472433A>G , CM000677.1:g.74472433A>G | GRCh37 |
| NC_000015.8:g.72259486A>G | NCBI36 |
| NG_009207.1:g.33939T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395105.9:c.1992T>C MANE Select | ENSP00000378537.4:p.Gly664= | |
| ENST00000323940.9:c.1992T>C | ENSP00000326085.5:p.Gly664= | |
| ENST00000395105.8:c.1992T>C | ENSP00000378537.4:p.Gly664= | |
| ENST00000416286.7:c.1968T>C | ENSP00000400403.3:p.Gly656= | |
| ENST00000423167.6:c.1965T>C | ENSP00000413012.2:p.Gly655= | |
| ENST00000449139.6:c.1992T>C | ENSP00000410221.2:p.Gly664= | |
| ENST00000535552.5:c.2103T>C | ENSP00000440238.1:p.Gly701= | |
| ENST00000545137.5:n.1701T>C | ||
| ENST00000563965.5:c.2109T>C | ENSP00000456609.1:p.Gly703= | |
| ENST00000574278.5:c.2037T>C | ENSP00000458827.1:p.Gly679= | |
| ENST00000574439.5:n.2264T>C | ||
| ENST00000616000.4:c.1992T>C | ENSP00000479112.1:p.Gly664= | |
| NM_001142617.1:c.1992T>C | NP_001136089.1:p.Gly664= | |
| NM_001142618.1:c.1992T>C | NP_001136090.1:p.Gly664= | |
| NM_001142619.1:c.1965T>C | NP_001136091.1:p.Gly655= | |
| NM_001199040.1:c.2103T>C | NP_001185969.1:p.Gly701= | |
| NM_001199041.1:c.2037T>C | NP_001185970.1:p.Gly679= | |
| NM_001199042.1:c.2109T>C | NP_001185971.1:p.Gly703= | |
| NM_022369.3:c.1992T>C | NP_071764.3:p.Gly664= | |
| XM_011521883.1:c.1992T>C | XP_011520185.1:p.Gly664= | |
| XM_011521884.1:c.1803T>C | XP_011520186.1:p.Gly601= | |
| XM_017022478.1:c.2040T>C | XP_016877967.1:p.Gly680= | |
| XM_017022479.1:c.1992T>C | XP_016877968.1:p.Gly664= | |
| XM_017022480.1:c.1803T>C | XP_016877969.1:p.Gly601= | |
| NM_022369.4:c.1992T>C MANE Select | NP_071764.3:p.Gly664= | |
| NM_001142617.2:c.1992T>C | NP_001136089.1:p.Gly664= | |
| NM_001142619.2:c.1965T>C | NP_001136091.1:p.Gly655= | |
| NM_001199042.2:c.2109T>C | NP_001185971.1:p.Gly703= | |
| NM_001142618.2:c.1992T>C | NP_001136090.1:p.Gly664= | |
| NM_001199040.2:c.2103T>C | NP_001185969.1:p.Gly701= | |
| NM_001199041.2:c.2037T>C | NP_001185970.1:p.Gly679= |