Linked Data
dbSNP Id:
rs749148365
ExAC:
6:6588990 T / C
gnomAD v2:
6-6588990-T-C
gnomAD v4:
6-6588757-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6588757T>C , CM000668.2:g.6588757T>C | GRCh38 |
| NC_000006.11:g.6588990T>C , CM000668.1:g.6588990T>C | GRCh37 |
| NC_000006.10:g.6533989T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230568.5:c.23T>C (LY86) MANE Select | ENSP00000230568.3:p.Leu8Pro | |
| ENST00000230568.4:c.23T>C (LY86) | ENSP00000230568.3:p.Leu8Pro | |
| ENST00000379953.6:c.23T>C (LY86) | ENSP00000369286.1:p.Leu8Pro | |
| NM_004271.3:c.23T>C (LY86) | NP_004262.1:p.Leu8Pro | |
| NR_026970.1:n.196-19268A>G (LY86-AS1) | ||
| XM_017011505.1:c.23T>C (LY86) | XP_016866994.1:p.Leu8Pro | |
| NM_004271.4:c.23T>C (LY86) MANE Select | NP_004262.1:p.Leu8Pro |