Linked Data
ClinVar Variation Id:
629873
ClinVar RCV Id:
RCV001049437
dbSNP Id:
rs368364062
ExAC:
11:2799240 C / T
gnomAD v2:
11-2799240-C-T
gnomAD v3:
11-2778010-C-T
gnomAD v4:
11-2778010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2778010C>T , CM000673.2:g.2778010C>T | GRCh38 |
| NC_000011.9:g.2799240C>T , CM000673.1:g.2799240C>T | GRCh37 |
| NC_000011.8:g.2755816C>T | NCBI36 |
| NG_008935.1:g.338020C>T , LRG_287:g.338020C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1410C>T | ENSP00000434560.2:p.Gly470= | |
| ENST00000646564.2:c.1227C>T | ENSP00000495806.2:p.Gly409= | |
| ENST00000155840.12:c.1767C>T MANE Select | ENSP00000155840.2:p.Gly589= | |
| ENST00000335475.6:c.1386C>T | ENSP00000334497.5:p.Gly462= | |
| ENST00000526095.2:c.171C>T | ENSP00000494939.1:p.Gly57= | |
| ENST00000646564.1:c.873C>T | ENSP00000495806.1:p.Gly291= | |
| ENST00000155840.9:c.1767C>T | ENSP00000155840.2:p.Gly589= | |
| ENST00000335475.5:c.1386C>T | ENSP00000334497.5:p.Gly462= | |
| ENST00000526095.1:n.274C>T | ||
| NM_000218.2:c.1767C>T , LRG_287t1:c.1767C>T | NP_000209.2:p.Gly589= | |
| NM_181798.1:c.1386C>T , LRG_287t2:c.1386C>T | NP_861463.1:p.Gly462= | |
| NM_000218.3:c.1767C>T MANE Select | NP_000209.2:p.Gly589= |