Linked Data
ClinVar Variation Id:
488739
dbSNP Id:
rs888075207
gnomAD v2:
5-127636522-G-A
gnomAD v3:
5-128300830-G-A
gnomAD v4:
5-128300830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300830G>A , CM000667.2:g.128300830G>A | GRCh38 |
| NC_000005.9:g.127636522G>A , CM000667.1:g.127636522G>A | GRCh37 |
| NC_000005.8:g.127664421G>A | NCBI36 |
| NG_008750.1:g.242214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2937C>T | ||
| ENST00000703785.1:n.2856C>T | ||
| ENST00000262464.9:c.6153C>T MANE Select | ENSP00000262464.4:p.Ser2051= | |
| ENST00000262464.8:c.6153C>T | ENSP00000262464.4:p.Ser2051= | |
| ENST00000508053.5:c.6153C>T | ENSP00000424571.1:p.Ser2051= | |
| ENST00000619499.4:c.6150C>T | ENSP00000482132.1:p.Ser2050= | |
| NM_001999.3:c.6153C>T | NP_001990.2:p.Ser2051= | |
| XM_017009228.2:c.6000C>T | XP_016864717.1:p.Ser2000= | |
| NM_001999.4:c.6153C>T MANE Select | NP_001990.2:p.Ser2051= |