Linked Data
ClinVar Variation Id:
450947
ClinVar RCV Id:
RCV000521807
dbSNP Id:
rs140464202
ExAC:
5:127729037 T / C
gnomAD v2:
5-127729037-T-C
gnomAD v3:
5-128393344-T-C
gnomAD v4:
5-128393344-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128393344T>C , CM000667.2:g.128393344T>C | GRCh38 |
| NC_000005.9:g.127729037T>C , CM000667.1:g.127729037T>C | GRCh37 |
| NC_000005.8:g.127756936T>C | NCBI36 |
| NG_008750.1:g.149699A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703787.1:n.963A>G | ||
| ENST00000262464.9:c.1256A>G MANE Select | ENSP00000262464.4:p.Asp419Gly | |
| ENST00000262464.8:c.1256A>G | ENSP00000262464.4:p.Asp419Gly | |
| ENST00000508053.5:c.1256A>G | ENSP00000424571.1:p.Asp419Gly | |
| ENST00000508989.5:c.1157A>G | ENSP00000425596.1:p.Asp386Gly | |
| ENST00000619499.4:c.1253A>G | ENSP00000482132.1:p.Asp418Gly | |
| NM_001999.3:c.1256A>G | NP_001990.2:p.Asp419Gly | |
| XM_017009228.2:c.1103A>G | XP_016864717.1:p.Asp368Gly | |
| NM_001999.4:c.1256A>G MANE Select | NP_001990.2:p.Asp419Gly |