Linked Data
dbSNP Id:
rs1794978921
gnomAD v4:
7-135644951-T-C
MyVariant Identifiers:
chr7:g.135329699T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135644951T>C , CM000669.2:g.135644951T>C | GRCh38 |
| NC_000007.13:g.135329699T>C , CM000669.1:g.135329699T>C | GRCh37 |
| NC_000007.12:g.134980239T>C | NCBI36 |
| NG_051184.1:g.92038T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285968.11:c.5616T>C MANE Select | ENSP00000285968.6:p.Tyr1872= | |
| ENST00000285968.10:c.5616T>C | ENSP00000285968.6:p.Tyr1872= | |
| ENST00000461255.5:n.823T>C | ||
| ENST00000477620.5:c.1378T>C | ||
| ENST00000490439.1:c.53T>C | ||
| ENST00000607647.5:n.3894T>C | ||
| NM_015135.2:c.5616T>C | NP_055950.1:p.Tyr1872= | |
| XM_005250235.2:c.4542T>C | XP_005250292.1:p.Tyr1514= | |
| NM_001329434.1:c.4542T>C | NP_001316363.1:p.Tyr1514= | |
| NM_015135.3:c.5616T>C MANE Select | NP_055950.2:p.Tyr1872= | |
| NM_001329434.2:c.4542T>C | NP_001316363.2:p.Tyr1514= |