Linked Data
ClinVar Variation Id:
1655779
ClinVar RCV Id:
RCV003774026
dbSNP Id:
rs767576981
ExAC:
5:147486683 T / C
gnomAD v2:
5-147486683-T-C
gnomAD v3:
5-148107120-T-C
gnomAD v4:
5-148107120-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148107120T>C , CM000667.2:g.148107120T>C | GRCh38 |
| NC_000005.9:g.147486683T>C , CM000667.1:g.147486683T>C | GRCh37 |
| NC_000005.8:g.147466876T>C | NCBI36 |
| NG_009633.1:g.48149T>C , LRG_110:g.48149T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.1172T>C | ||
| ENST00000256084.8:c.1563T>C MANE Select | ENSP00000256084.7:p.Asp521= | |
| ENST00000256084.7:c.1563T>C | ENSP00000256084.7:p.Asp521= | |
| ENST00000359874.7:c.1563T>C | ENSP00000352936.3:p.Asp521= | |
| ENST00000398454.5:c.1563T>C | ENSP00000381472.1:p.Asp521= | |
| ENST00000507988.5:n.1727T>C | ||
| ENST00000508733.5:c.1506T>C | ENSP00000421519.1:p.Asp502= | |
| NM_001127698.1:c.1563T>C | NP_001121170.1:p.Asp521= | |
| NM_001127699.1:c.1563T>C | NP_001121171.1:p.Asp521= | |
| NM_006846.3:c.1563T>C , LRG_110t1:c.1563T>C | NP_006837.2:p.Asp521= | |
| XM_011537550.1:c.1506T>C | XP_011535852.1:p.Asp502= | |
| XM_011537551.1:c.1479T>C | XP_011535853.1:p.Asp493= | |
| XM_011537551.2:c.1479T>C | XP_011535853.1:p.Asp493= | |
| NM_001127698.2:c.1563T>C | NP_001121170.1:p.Asp521= | |
| NM_001127699.2:c.1563T>C | NP_001121171.1:p.Asp521= | |
| NM_006846.4:c.1563T>C MANE Select | NP_006837.2:p.Asp521= |