Linked Data
ClinVar Variation Id:
137323
dbSNP Id:
rs371640952
ExAC:
5:127681221 G / A
gnomAD v2:
5-127681221-G-A
gnomAD v3:
5-128345529-G-A
gnomAD v4:
5-128345529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128345529G>A , CM000667.2:g.128345529G>A | GRCh38 |
| NC_000005.9:g.127681221G>A , CM000667.1:g.127681221G>A | GRCh37 |
| NC_000005.8:g.127709120G>A | NCBI36 |
| NG_008750.1:g.197515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3045C>T MANE Select | ENSP00000262464.4:p.Pro1015= | |
| ENST00000262464.8:c.3045C>T | ENSP00000262464.4:p.Pro1015= | |
| ENST00000508053.5:c.3045C>T | ENSP00000424571.1:p.Pro1015= | |
| ENST00000508989.5:c.2946C>T | ENSP00000425596.1:p.Pro982= | |
| ENST00000619499.4:c.3042C>T | ENSP00000482132.1:p.Pro1014= | |
| NM_001999.3:c.3045C>T | NP_001990.2:p.Pro1015= | |
| XM_017009228.2:c.2892C>T | XP_016864717.1:p.Pro964= | |
| NM_001999.4:c.3045C>T MANE Select | NP_001990.2:p.Pro1015= |