Linked Data
dbSNP Id:
rs1718793190
gnomAD v4:
4-73408647-T-C
MyVariant Identifiers:
chr4:g.74274364T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73408647T>C , CM000666.2:g.73408647T>C | GRCh38 |
| NC_000004.11:g.74274364T>C , CM000666.1:g.74274364T>C | GRCh37 |
| NC_000004.10:g.74493228T>C | NCBI36 |
| NG_009291.1:g.9393T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.324T>C MANE Select | ENSP00000295897.4:p.Tyr108= | |
| ENST00000295897.8:c.324T>C | ENSP00000295897.4:p.Tyr108= | |
| ENST00000401494.7:c.138-708T>C | ENSP00000384695.3:n.138-708T>C | |
| ENST00000415165.6:c.138-3349T>C | ENSP00000401820.2:n.138-3349T>C | |
| ENST00000441319.5:c.330T>C | ENSP00000392541.1:p.Tyr110= | |
| ENST00000476441.6:c.80-708T>C | ENSP00000423727.1:n.80-708T>C | |
| ENST00000503124.5:c.33-708T>C | ENSP00000421027.1:n.33-708T>C | |
| ENST00000505649.5:n.10T>C | ||
| ENST00000509063.5:c.324T>C | ENSP00000422784.1:p.Tyr108= | |
| ENST00000510166.5:n.360T>C | ||
| ENST00000514786.1:n.293T>C | ||
| ENST00000515133.5:n.365T>C | ||
| ENST00000621085.4:c.324T>C | ENSP00000483421.1:p.Tyr108= | |
| ENST00000621628.4:c.324T>C | ENSP00000480485.1:p.Tyr108= | |
| NM_000477.5:c.324T>C | NP_000468.1:p.Tyr108= | |
| NM_000477.6:c.324T>C | NP_000468.1:p.Tyr108= | |
| NM_000477.7:c.324T>C MANE Select | NP_000468.1:p.Tyr108= |