Linked Data
ClinVar Variation Id:
213360
dbSNP Id:
rs562508529
ExAC:
5:127613643 T / C
gnomAD v2:
5-127613643-T-C
gnomAD v3:
5-128277951-T-C
gnomAD v4:
5-128277951-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128277951T>C , CM000667.2:g.128277951T>C | GRCh38 |
| NC_000005.9:g.127613643T>C , CM000667.1:g.127613643T>C | GRCh37 |
| NC_000005.8:g.127641542T>C | NCBI36 |
| NG_008750.1:g.265093A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.4184A>G | ||
| ENST00000262464.9:c.7400A>G MANE Select | ENSP00000262464.4:p.Asn2467Ser | |
| ENST00000262464.8:c.7400A>G | ENSP00000262464.4:p.Asn2467Ser | |
| ENST00000508053.5:c.7400A>G | ENSP00000424571.1:p.Asn2467Ser | |
| ENST00000619499.4:c.7397A>G | ENSP00000482132.1:p.Asn2466Ser | |
| NM_001999.3:c.7400A>G | NP_001990.2:p.Asn2467Ser | |
| XM_017009228.2:c.7247A>G | XP_016864717.1:p.Asn2416Ser | |
| NM_001999.4:c.7400A>G MANE Select | NP_001990.2:p.Asn2467Ser |