Linked Data
gnomAD v4:
6-18130693-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130693T>C , CM000668.2:g.18130693T>C | GRCh38 |
| NC_000006.11:g.18130924T>C , CM000668.1:g.18130924T>C | GRCh37 |
| NC_000006.10:g.18238903T>C | NCBI36 |
| NG_012137.2:g.29451A>G | |
| NG_012137.3:g.29451A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.713A>G MANE Select | ENSP00000312304.4:p.Lys238Arg | |
| ENST00000309983.4:c.713A>G | ENSP00000312304.4:p.Lys238Arg | |
| NM_000367.3:c.713A>G | NP_000358.1:p.Lys238Arg | |
| XM_011514839.1:c.668A>G | XP_011513141.1:p.Lys223Arg | |
| XM_011514840.1:c.644A>G | XP_011513142.1:p.Lys215Arg | |
| NM_000367.4:c.713A>G | NP_000358.1:p.Lys238Arg | |
| NM_001346817.1:c.713A>G | NP_001333746.1:p.Lys238Arg | |
| NM_001346818.1:c.668A>G | NP_001333747.1:p.Lys223Arg | |
| NM_000367.5:c.713A>G MANE Select | NP_000358.1:p.Lys238Arg |