Linked Data
ClinVar Variation Id:
945156
ClinVar RCV Id:
RCV001215726
dbSNP Id:
rs914081385
gnomAD v2:
5-127673706-G-A
gnomAD v3:
5-128338014-G-A
gnomAD v4:
5-128338014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338014G>A , CM000667.2:g.128338014G>A | GRCh38 |
| NC_000005.9:g.127673706G>A , CM000667.1:g.127673706G>A | GRCh37 |
| NC_000005.8:g.127701605G>A | NCBI36 |
| NG_008750.1:g.205030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.365C>T | ||
| ENST00000703785.1:n.446C>T | ||
| ENST00000262464.9:c.3581C>T MANE Select | ENSP00000262464.4:p.Ser1194Phe | |
| ENST00000262464.8:c.3581C>T | ENSP00000262464.4:p.Ser1194Phe | |
| ENST00000507835.5:c.131C>T | ENSP00000426839.1:p.Ser44Phe | |
| ENST00000508053.5:c.3581C>T | ENSP00000424571.1:p.Ser1194Phe | |
| ENST00000508989.5:c.3482C>T | ENSP00000425596.1:p.Ser1161Phe | |
| ENST00000619499.4:c.3578C>T | ENSP00000482132.1:p.Ser1193Phe | |
| NM_001999.3:c.3581C>T | NP_001990.2:p.Ser1194Phe | |
| XM_017009228.2:c.3428C>T | XP_016864717.1:p.Ser1143Phe | |
| NM_001999.4:c.3581C>T MANE Select | NP_001990.2:p.Ser1194Phe |