Linked Data
ClinVar Variation Id:
129123
dbSNP Id:
rs1129647
ExAC:
5:161281245 T / C
gnomAD v2:
5-161281245-T-C
gnomAD v3:
5-161854239-T-C
gnomAD v4:
5-161854239-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161854239T>C , CM000667.2:g.161854239T>C | GRCh38 |
| NC_000005.9:g.161281245T>C , CM000667.1:g.161281245T>C | GRCh37 |
| NC_000005.8:g.161213823T>C | NCBI36 |
| NG_011548.1:g.12049T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393943.10:c.156T>C MANE Select | ENSP00000377517.4:p.Gly52= | |
| ENST00000635880.1:c.156T>C | ENSP00000489738.1:p.Gly52= | |
| ENST00000635916.2:n.931T>C | ||
| ENST00000636340.1:c.*5T>C | ENSP00000490002.1:n.*5T>C | |
| ENST00000636573.1:c.156T>C | ENSP00000490320.1:p.Gly52= | |
| ENST00000637044.1:c.156T>C | ENSP00000490684.1:p.Gly52= | |
| ENST00000637827.1:c.156T>C | ENSP00000490804.1:p.Gly52= | |
| ENST00000638112.1:c.156T>C | ENSP00000489839.1:p.Gly52= | |
| ENST00000638159.1:c.201T>C | ENSP00000490360.1:p.Gly67= | |
| ENST00000023897.10:c.156T>C | ENSP00000023897.6:p.Gly52= | |
| ENST00000393943.9:c.156T>C | ENSP00000377517.4:p.Gly52= | |
| ENST00000428797.7:c.156T>C | ENSP00000393097.2:p.Gly52= | |
| ENST00000437025.6:c.156T>C | ENSP00000415441.2:p.Gly52= | |
| ENST00000519621.2:c.156T>C | ENSP00000430435.2:p.Gly52= | |
| ENST00000521339.5:c.174T>C | ENSP00000430895.1:p.Gly58= | |
| ENST00000522651.6:c.219T>C | ENSP00000430507.2:p.Gly73= | |
| ENST00000634335.1:c.156T>C | ENSP00000489434.1:p.Gly52= | |
| NM_000806.5:c.156T>C | NP_000797.2:p.Gly52= | |
| NM_001127643.1:c.156T>C | NP_001121115.1:p.Gly52= | |
| NM_001127644.1:c.156T>C | NP_001121116.1:p.Gly52= | |
| NM_001127645.1:c.156T>C | NP_001121117.1:p.Gly52= | |
| NM_001127648.1:c.156T>C | NP_001121120.1:p.Gly52= | |
| NM_001127644.2:c.156T>C MANE Select | NP_001121116.1:p.Gly52= | |
| NM_001127643.2:c.156T>C | NP_001121115.1:p.Gly52= | |
| NM_001127645.2:c.156T>C | NP_001121117.1:p.Gly52= | |
| NM_001127648.2:c.156T>C | NP_001121120.1:p.Gly52= |