Linked Data
ClinVar Variation Id:
754461
ClinVar RCV Id:
RCV000931782
dbSNP Id:
rs1424987869
gnomAD v3:
14-29626506-T-C
gnomAD v4:
14-29626506-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.29626506T>C , CM000676.2:g.29626506T>C | GRCh38 |
| NC_000014.8:g.30095712T>C , CM000676.1:g.30095712T>C | GRCh37 |
| NC_000014.7:g.29165463T>C | NCBI36 |
| NG_052879.1:g.306188A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616995.5:n.1547A>G | ||
| ENST00000691517.1:n.1060A>G | ||
| ENST00000331968.11:c.1776A>G MANE Select | ENSP00000333568.6:p.Gly592= | |
| ENST00000651571.1:c.1588A>G | ENSP00000498919.1:n.1588A>G | |
| ENST00000651616.1:c.1657A>G | ENSP00000498661.1:n.1657A>G | |
| ENST00000331968.9:c.1776A>G | ENSP00000333568.5:p.Gly592= | |
| ENST00000415220.6:c.1800A>G | ENSP00000390535.2:p.Gly600= | |
| ENST00000616995.4:c.1776A>G | ENSP00000482645.1:p.Gly592= | |
| NM_002742.2:c.1776A>G | NP_002733.2:p.Gly592= | |
| XM_005267859.1:c.1800A>G | XP_005267916.1:p.Gly600= | |
| XM_011536964.1:c.1572A>G | XP_011535266.1:p.Gly524= | |
| XM_011536965.1:c.1512A>G | XP_011535267.1:p.Gly504= | |
| XR_943493.1:n.1915A>G | ||
| NM_001330069.1:c.1800A>G | NP_001316998.1:p.Gly600= | |
| NM_001348390.1:c.1512A>G | NP_001335319.1:p.Gly504= | |
| XM_011536965.2:c.1512A>G | XP_011535267.1:p.Gly504= | |
| XM_017021462.1:c.1281A>G | XP_016876951.1:p.Gly427= | |
| XR_943493.2:n.2093A>G | ||
| NM_001330069.2:c.1800A>G | NP_001316998.1:p.Gly600= | |
| NM_002742.3:c.1776A>G MANE Select | NP_002733.2:p.Gly592= |