Linked Data
dbSNP Id:
rs1684665714
gnomAD v4:
1-70439121-C-T
MyVariant Identifiers:
chr1:g.70904804C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70439121C>T , CM000663.2:g.70439121C>T | GRCh38 |
| NC_000001.10:g.70904804C>T , CM000663.1:g.70904804C>T | GRCh37 |
| NC_000001.9:g.70677392C>T | NCBI36 |
| NG_008041.1:g.32850C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370938.8:c.1212C>T MANE Select | ENSP00000359976.3:p.His404= | |
| ENST00000346806.2:c.1080C>T | ENSP00000311554.2:p.His360= | |
| ENST00000370938.7:c.1212C>T | ENSP00000359976.3:p.His404= | |
| ENST00000411986.6:c.1116C>T | ENSP00000413407.2:p.His372= | |
| ENST00000482383.1:n.487C>T | ||
| NM_001190463.1:c.1116C>T | NP_001177392.1:p.His372= | |
| NM_001902.5:c.1212C>T | NP_001893.2:p.His404= | |
| NM_153742.4:c.1080C>T | NP_714964.2:p.His360= | |
| XM_005270509.2:c.885C>T | XP_005270566.1:p.His295= | |
| XM_011540787.1:c.642C>T | XP_011539089.1:p.His214= | |
| XM_005270509.3:c.885C>T | XP_005270566.1:p.His295= | |
| XM_017000416.2:c.642C>T | XP_016855905.1:p.His214= | |
| NM_001902.6:c.1212C>T MANE Select | NP_001893.2:p.His404= | |
| NM_001190463.2:c.1116C>T | NP_001177392.1:p.His372= | |
| NM_153742.5:c.1080C>T | NP_714964.2:p.His360= |