Linked Data
ClinVar Variation Id:
411814
dbSNP Id:
rs1060503502
gnomAD v2:
5-127611791-C-A
gnomAD v4:
5-128276099-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128276099C>A , CM000667.2:g.128276099C>A | GRCh38 |
| NC_000005.9:g.127611791C>A , CM000667.1:g.127611791C>A | GRCh37 |
| NC_000005.8:g.127639690C>A | NCBI36 |
| NG_008750.1:g.266945G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.4317G>T | ||
| ENST00000262464.9:c.7533G>T MANE Select | ENSP00000262464.4:p.Gly2511= | |
| ENST00000262464.8:c.7533G>T | ENSP00000262464.4:p.Gly2511= | |
| ENST00000508053.5:c.7533G>T | ENSP00000424571.1:p.Gly2511= | |
| ENST00000619499.4:c.7530G>T | ENSP00000482132.1:p.Gly2510= | |
| NM_001999.3:c.7533G>T | NP_001990.2:p.Gly2511= | |
| XM_017009228.2:c.7380G>T | XP_016864717.1:p.Gly2460= | |
| NM_001999.4:c.7533G>T MANE Select | NP_001990.2:p.Gly2511= |