Linked Data
ClinVar Variation Id:
3884
dbSNP Id:
rs121907985
ExAC:
5:74016469 C / T
gnomAD v2:
5-74016469-C-T
gnomAD v3:
5-74720644-C-T
gnomAD v4:
5-74720644-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74720644C>T , CM000667.2:g.74720644C>T | GRCh38 |
| NC_000005.9:g.74016469C>T , CM000667.1:g.74016469C>T | GRCh37 |
| NC_000005.8:g.74052225C>T | NCBI36 |
| NG_009770.1:g.40501C>T | |
| NG_011531.1:g.51574G>A | |
| NG_009770.2:g.85622C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.1510C>T MANE Select | ENSP00000261416.7:p.Pro504Ser | |
| ENST00000261416.11:c.1510C>T | ENSP00000261416.7:p.Pro504Ser | |
| ENST00000503312.5:c.386C>T | ||
| ENST00000504459.5:n.707C>T | ||
| ENST00000505859.1:c.33C>T | ||
| ENST00000509579.1:c.-54C>T | ENSP00000424939.1:n.-54C>T | |
| ENST00000511181.5:c.835C>T | ENSP00000426285.1:p.Pro279Ser | |
| ENST00000513336.5:c.446C>T | ||
| ENST00000513539.1:n.229C>T | ||
| NM_000521.3:c.1510C>T | NP_000512.1:p.Pro504Ser | |
| NM_001292004.1:c.835C>T | NP_001278933.1:p.Pro279Ser | |
| NM_000521.4:c.1510C>T MANE Select | NP_000512.2:p.Pro504Ser | |
| NM_001292004.2:c.835C>T | NP_001278933.1:p.Pro279Ser |