Linked Data
ClinVar Variation Id:
136587
ClinVar RCV Id:
RCV000173516
RCV000305599
RCV000301625
RCV000359159
RCV000395926
RCV000676300
RCV001847741
dbSNP Id:
rs11542130
ExAC:
10:102748606 C / T
gnomAD v2:
10-102748606-C-T
gnomAD v3:
10-100988849-C-T
gnomAD v4:
10-100988849-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100988849C>T , CM000672.2:g.100988849C>T | GRCh38 |
| NC_000010.10:g.102748606C>T , CM000672.1:g.102748606C>T | GRCh37 |
| NC_000010.9:g.102738596C>T | NCBI36 |
| NG_011646.1:g.3667G>A | |
| NG_012624.1:g.6314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.639C>T MANE Select | ENSP00000309595.2:p.Gly213= | |
| ENST00000370228.2:c.639C>T | ENSP00000359248.1:p.Gly213= | |
| ENST00000643860.1:c.639C>T | ENSP00000494389.1:p.Gly213= | |
| ENST00000646226.1:n.59-795C>T | ||
| ENST00000311916.6:c.639C>T | ENSP00000309595.2:p.Gly213= | |
| ENST00000370228.1:c.639C>T | ENSP00000359248.1:p.Gly213= | |
| ENST00000459764.1:n.87-795C>T | ||
| ENST00000473656.5:n.65-795C>T | ||
| ENST00000476766.5:n.192-857C>T | ||
| NM_001163812.1:c.639C>T | NP_001157284.1:p.Gly213= | |
| NM_001163813.1:c.-119-795C>T | NP_001157285.1:n.-119-795C>T | |
| NM_001163814.1:c.-119-795C>T | NP_001157286.1:n.-119-795C>T | |
| NM_021830.4:c.639C>T | NP_068602.2:p.Gly213= | |
| XM_011539975.1:c.-57-857C>T | XP_011538277.1:n.-57-857C>T | |
| XR_945788.1:n.1472C>T | ||
| XM_011539975.2:c.-57-857C>T | XP_011538277.1:n.-57-857C>T | |
| XM_017016437.1:c.-662C>T | XP_016871926.1:n.-662C>T | |
| XR_001747142.1:n.813C>T | ||
| XR_001747144.1:n.813C>T | ||
| XR_002956991.1:n.813C>T | ||
| XR_945788.2:n.813C>T | ||
| NM_021830.5:c.639C>T MANE Select | NP_068602.2:p.Gly213= | |
| NM_001163812.2:c.639C>T | NP_001157284.1:p.Gly213= | |
| NM_001163813.2:c.-119-795C>T | NP_001157285.1:n.-119-795C>T | |
| NM_001163814.2:c.-119-795C>T | NP_001157286.1:n.-119-795C>T | |
| NM_001368275.1:c.-57-857C>T | NP_001355204.1:n.-57-857C>T | |
| NR_160738.1:n.1307C>T | ||
| NR_160739.1:n.72-795C>T | ||
| NR_160740.1:n.1307C>T | ||
| NR_160741.1:n.1307C>T | ||
| NR_160742.1:n.1307C>T |