Linked Data
ClinVar Variation Id:
213421
dbSNP Id:
rs863223612
gnomAD v2:
5-127624168-T-C
gnomAD v4:
5-128288476-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128288476T>C , CM000667.2:g.128288476T>C | GRCh38 |
| NC_000005.9:g.127624168T>C , CM000667.1:g.127624168T>C | GRCh37 |
| NC_000005.8:g.127652067T>C | NCBI36 |
| NG_008750.1:g.254568A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3503A>G | ||
| ENST00000703785.1:n.3422A>G | ||
| ENST00000262464.9:c.6719A>G MANE Select | ENSP00000262464.4:p.Asn2240Ser | |
| ENST00000262464.8:c.6719A>G | ENSP00000262464.4:p.Asn2240Ser | |
| ENST00000508053.5:c.6719A>G | ENSP00000424571.1:p.Asn2240Ser | |
| ENST00000619499.4:c.6716A>G | ENSP00000482132.1:p.Asn2239Ser | |
| NM_001999.3:c.6719A>G | NP_001990.2:p.Asn2240Ser | |
| XM_017009228.2:c.6566A>G | XP_016864717.1:p.Asn2189Ser | |
| NM_001999.4:c.6719A>G MANE Select | NP_001990.2:p.Asn2240Ser |