Linked Data
dbSNP Id:
rs1935098775
gnomAD v4:
22-36564807-A-G
MyVariant Identifiers:
chr22:g.36960854A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564807A>G , CM000684.2:g.36564807A>G | GRCh38 |
| NC_000022.10:g.36960854A>G , CM000684.1:g.36960854A>G | GRCh37 |
| NC_000022.9:g.35290800A>G | NCBI36 |
| NG_031861.1:g.142837T>C | |
| NG_031861.2:g.143052T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.516T>C MANE Select | ENSP00000300105.6:p.Asn172= | |
| ENST00000300105.6:c.516T>C | ENSP00000300105.6:p.Asn172= | |
| NM_006078.3:c.516T>C | NP_006069.1:p.Asn172= | |
| NM_006078.4:c.516T>C | NP_006069.1:p.Asn172= | |
| XM_017028531.2:c.258T>C | XP_016884020.1:p.Asn86= | |
| NM_001379051.1:c.447T>C | NP_001365980.1:p.Asn149= | |
| NM_006078.5:c.516T>C MANE Select | NP_006069.1:p.Asn172= | |
| NR_166440.1:n.1882T>C |