Linked Data
ClinVar Variation Id:
2890492
ClinVar RCV Id:
RCV003720515
dbSNP Id:
rs1563191695
gnomAD v4:
7-70777111-G-C
MyVariant Identifiers:
chr7:g.70242097G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70777111G>C , CM000669.2:g.70777111G>C | GRCh38 |
| NC_000007.13:g.70242097G>C , CM000669.1:g.70242097G>C | GRCh37 |
| NC_000007.12:g.69880033G>C | NCBI36 |
| NG_034133.1:g.1183193G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700075.1:c.9G>C | ENSP00000514784.1:p.Gly3= | |
| ENST00000342771.10:c.1941G>C MANE Select | ENSP00000344087.4:p.Gly647= | |
| ENST00000439256.2:c.39G>C | ENSP00000407058.2:p.Gly13= | |
| ENST00000443672.2:c.276G>C | ENSP00000393548.2:p.Gly92= | |
| ENST00000449547.6:c.34G>C | ||
| ENST00000464768.2:n.609G>C | ||
| ENST00000644359.1:c.522G>C | ENSP00000494561.1:p.Gly174= | |
| ENST00000644506.1:c.567G>C | ENSP00000496672.1:p.Gly189= | |
| ENST00000644939.1:c.1938G>C | ENSP00000496726.1:p.Gly646= | |
| ENST00000644949.1:c.272G>C | ||
| ENST00000646136.1:n.252G>C | ||
| ENST00000647140.1:c.806G>C | ||
| ENST00000342771.8:c.1941G>C | ENSP00000344087.4:p.Gly647= | |
| ENST00000406775.6:c.1869G>C | ENSP00000385263.2:p.Gly623= | |
| ENST00000439256.1:c.39G>C | ||
| ENST00000443672.1:c.521G>C | ||
| ENST00000464768.1:n.607G>C | ||
| ENST00000465899.1:n.438G>C | ||
| ENST00000498384.5:n.309G>C | ||
| ENST00000611706.4:c.1197G>C | ENSP00000478134.1:p.Gly399= | |
| ENST00000615871.4:c.1125G>C | ENSP00000479325.1:p.Gly375= | |
| NM_001127231.2:c.1869G>C | NP_001120703.1:p.Gly623= | |
| NM_015570.3:c.1941G>C | NP_056385.1:p.Gly647= | |
| XM_005250257.1:c.588G>C | XP_005250314.1:p.Gly196= | |
| XM_011516010.1:c.1962G>C | XP_011514312.1:p.Gly654= | |
| XM_011516011.1:c.1959G>C | XP_011514313.1:p.Gly653= | |
| XM_011516012.1:c.1896G>C | XP_011514314.1:p.Gly632= | |
| XM_011516013.1:c.1890G>C | XP_011514315.1:p.Gly630= | |
| XM_011516014.1:c.1860G>C | XP_011514316.1:p.Gly620= | |
| XM_011516015.1:c.1698G>C | XP_011514317.1:p.Gly566= | |
| XM_011516016.1:c.1671G>C | XP_011514318.1:p.Gly557= | |
| XM_011516017.1:c.1488G>C | XP_011514319.1:p.Gly496= | |
| XM_011516018.1:c.1461G>C | XP_011514320.1:p.Gly487= | |
| XM_005250257.2:c.588G>C | XP_005250314.1:p.Gly196= | |
| XM_011516010.2:c.1962G>C | XP_011514312.1:p.Gly654= | |
| XM_011516011.2:c.1959G>C | XP_011514313.1:p.Gly653= | |
| XM_011516012.2:c.1896G>C | XP_011514314.1:p.Gly632= | |
| XM_011516013.2:c.1890G>C | XP_011514315.1:p.Gly630= | |
| XM_011516014.2:c.1860G>C | XP_011514316.1:p.Gly620= | |
| XM_011516017.2:c.1488G>C | XP_011514319.1:p.Gly496= | |
| XM_011516018.2:c.1461G>C | XP_011514320.1:p.Gly487= | |
| XM_017011951.2:c.1962G>C | XP_016867440.1:p.Gly654= | |
| NM_001127231.3:c.1869G>C | NP_001120703.1:p.Gly623= | |
| NM_015570.4:c.1941G>C MANE Select | NP_056385.1:p.Gly647= |