Linked Data
dbSNP Id:
rs1660349788
gnomAD v4:
1-85270739-G-A
MyVariant Identifiers:
chr1:g.85736422G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.85270739G>A , CM000663.2:g.85270739G>A | GRCh38 |
| NC_000001.10:g.85736422G>A , CM000663.1:g.85736422G>A | GRCh37 |
| NC_000001.9:g.85509010G>A | NCBI36 |
| NG_012216.1:g.12162C>T | |
| NG_012216.2:g.11166C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620248.3:c.225C>T | ENSP00000480561.2:p.Asn75= | |
| ENST00000620248.2:c.225C>T | ENSP00000480561.2:p.Asn75= | |
| ENST00000648566.1:c.225C>T MANE Select | ENSP00000498104.1:p.Asn75= | |
| ENST00000649434.1:n.291C>T | ||
| ENST00000650582.1:n.756C>T | ||
| ENST00000370580.5:c.225C>T | ENSP00000359612.1:p.Asn75= | |
| ENST00000620248.1:c.225C>T | ENSP00000480561.1:p.Asn75= | |
| NM_003921.4:c.225C>T | NP_003912.1:p.Asn75= | |
| XM_005271311.2:c.225C>T | XP_005271368.1:p.Asn75= | |
| XM_011542397.1:c.384C>T | XP_011540699.1:p.Asn128= | |
| XM_011542398.1:c.384C>T | XP_011540700.1:p.Asn128= | |
| XM_011542399.1:c.171C>T | XP_011540701.1:p.Asn57= | |
| NM_001320715.1:c.225C>T | NP_001307644.1:p.Asn75= | |
| NM_003921.5:c.225C>T MANE Select | NP_003912.1:p.Asn75= | |
| XM_011542397.3:c.384C>T | XP_011540699.1:p.Asn128= | |
| XM_011542398.2:c.384C>T | XP_011540700.1:p.Asn128= | |
| XM_011542399.2:c.171C>T | XP_011540701.1:p.Asn57= | |
| NM_001320715.2:c.225C>T | NP_001307644.1:p.Asn75= |