Linked Data
ClinVar Variation Id:
519575
ClinVar RCV Id:
RCV002314192
dbSNP Id:
rs369851490
ExAC:
5:127673768 G / C
gnomAD v2:
5-127673768-G-C
gnomAD v3:
5-128338076-G-C
gnomAD v4:
5-128338076-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338076G>C , CM000667.2:g.128338076G>C | GRCh38 |
| NC_000005.9:g.127673768G>C , CM000667.1:g.127673768G>C | GRCh37 |
| NC_000005.8:g.127701667G>C | NCBI36 |
| NG_008750.1:g.204968C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.303C>G | ||
| ENST00000703785.1:n.384C>G | ||
| ENST00000262464.9:c.3519C>G MANE Select | ENSP00000262464.4:p.Thr1173= | |
| ENST00000262464.8:c.3519C>G | ENSP00000262464.4:p.Thr1173= | |
| ENST00000507835.5:c.69C>G | ENSP00000426839.1:p.Thr23= | |
| ENST00000508053.5:c.3519C>G | ENSP00000424571.1:p.Thr1173= | |
| ENST00000508989.5:c.3420C>G | ENSP00000425596.1:p.Thr1140= | |
| ENST00000619499.4:c.3516C>G | ENSP00000482132.1:p.Thr1172= | |
| NM_001999.3:c.3519C>G | NP_001990.2:p.Thr1173= | |
| XM_017009228.2:c.3366C>G | XP_016864717.1:p.Thr1122= | |
| NM_001999.4:c.3519C>G MANE Select | NP_001990.2:p.Thr1173= |