Linked Data
ClinVar Variation Id:
337308
dbSNP Id:
rs141123597
ExAC:
2:85892741 C / G
gnomAD v2:
2-85892741-C-G
gnomAD v3:
2-85665618-C-G
gnomAD v4:
2-85665618-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85665618C>G , CM000664.2:g.85665618C>G | GRCh38 |
| NC_000002.11:g.85892741C>G , CM000664.1:g.85892741C>G | GRCh37 |
| NC_000002.10:g.85746252C>G | NCBI36 |
| NG_016967.1:g.8124G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.570G>C | ENSP00000386346.2:p.Gly190= | |
| ENST00000519937.7:c.570G>C MANE Select | ENSP00000428719.2:p.Gly190= | |
| ENST00000393822.7:c.570G>C | ENSP00000377409.4:p.Gly190= | |
| ENST00000409383.5:c.606G>C | ENSP00000386346.1:p.Gly202= | |
| ENST00000428225.5:c.559G>C | ||
| ENST00000519937.6:c.570G>C | ENSP00000428719.2:p.Gly190= | |
| NM_000542.3:c.606G>C | NP_000533.3:p.Gly202= | |
| NM_198843.2:c.606G>C | NP_942140.2:p.Gly202= | |
| XM_005264487.2:c.606G>C | XP_005264544.1:p.Gly202= | |
| XM_005264488.2:c.570G>C | XP_005264545.2:p.Gly190= | |
| XM_005264490.3:c.570G>C | XP_005264547.2:p.Gly190= | |
| XM_005264488.4:c.570G>C | XP_005264545.2:p.Gly190= | |
| XM_005264490.4:c.570G>C | XP_005264547.2:p.Gly190= | |
| NM_000542.4:c.570G>C | NP_000533.4:p.Gly190= | |
| NM_001367281.1:c.570G>C | NP_001354210.1:p.Gly190= | |
| NM_198843.3:c.570G>C | NP_942140.3:p.Gly190= | |
| NM_000542.5:c.570G>C MANE Select | NP_000533.4:p.Gly190= |