Linked Data
ClinVar Variation Id:
2717871
ClinVar RCV Id:
RCV003499203
dbSNP Id:
rs1238123231
gnomAD v2:
8-61654915-G-T
gnomAD v4:
8-60742356-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60742356G>T , CM000670.2:g.60742356G>T | GRCh38 |
| NC_000008.10:g.61654915G>T , CM000670.1:g.61654915G>T | GRCh37 |
| NC_000008.9:g.61817469G>T | NCBI36 |
| NG_007009.1:g.68577G>T , LRG_176:g.68577G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695848.1:n.1437G>T | ||
| ENST00000695849.1:n.1437G>T | ||
| ENST00000695853.1:c.924G>T | ENSP00000512218.1:p.Gly308= | |
| ENST00000700671.1:c.924G>T | ENSP00000515139.1:p.Gly308= | |
| ENST00000423902.7:c.924G>T MANE Select | ENSP00000392028.1:p.Gly308= | |
| ENST00000423902.6:c.924G>T | ENSP00000392028.1:p.Gly308= | |
| ENST00000524602.5:c.924G>T | ENSP00000437061.1:p.Gly308= | |
| ENST00000525508.1:c.924G>T | ENSP00000436027.1:p.Gly308= | |
| ENST00000527825.1:c.32-464G>T | ||
| NM_001316690.1:c.924G>T | NP_001303619.1:p.Gly308= | |
| NM_017780.3:c.924G>T | NP_060250.2:p.Gly308= | |
| XM_011517553.1:c.924G>T | XP_011515855.1:p.Gly308= | |
| XM_011517554.1:c.924G>T | XP_011515856.1:p.Gly308= | |
| XM_011517555.1:c.924G>T | XP_011515857.1:p.Gly308= | |
| XM_011517556.1:c.924G>T | XP_011515858.1:p.Gly308= | |
| XM_011517560.1:c.924G>T | XP_011515862.1:p.Gly308= | |
| XM_011517553.2:c.924G>T | XP_011515855.1:p.Gly308= | |
| XM_011517554.3:c.924G>T | XP_011515856.1:p.Gly308= | |
| XM_011517555.2:c.924G>T | XP_011515857.1:p.Gly308= | |
| XM_011517560.2:c.924G>T | XP_011515862.1:p.Gly308= | |
| XM_017013612.1:c.924G>T | XP_016869101.1:p.Gly308= | |
| XM_017013613.1:c.924G>T | XP_016869102.1:p.Gly308= | |
| NM_017780.4:c.924G>T MANE Select | NP_060250.2:p.Gly308= |