Linked Data
MyVariant Identifiers:
chr6:g.18130929A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130698A>G , CM000668.2:g.18130698A>G | GRCh38 |
| NC_000006.11:g.18130929A>G , CM000668.1:g.18130929A>G | GRCh37 |
| NC_000006.10:g.18238908A>G | NCBI36 |
| NG_012137.2:g.29446T>C | |
| NG_012137.3:g.29446T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.708T>C MANE Select | ENSP00000312304.4:p.Phe236= | |
| ENST00000309983.4:c.708T>C | ENSP00000312304.4:p.Phe236= | |
| NM_000367.3:c.708T>C | NP_000358.1:p.Phe236= | |
| XM_011514839.1:c.663T>C | XP_011513141.1:p.Phe221= | |
| XM_011514840.1:c.639T>C | XP_011513142.1:p.Phe213= | |
| NM_000367.4:c.708T>C | NP_000358.1:p.Phe236= | |
| NM_001346817.1:c.708T>C | NP_001333746.1:p.Phe236= | |
| NM_001346818.1:c.663T>C | NP_001333747.1:p.Phe221= | |
| NM_000367.5:c.708T>C MANE Select | NP_000358.1:p.Phe236= |