Linked Data
dbSNP Id:
rs751430176
ExAC:
1:186649417 G / C
gnomAD v2:
1-186649417-G-C
gnomAD v4:
1-186680285-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680285G>C , CM000663.2:g.186680285G>C | GRCh38 |
| NC_000001.10:g.186649417G>C , CM000663.1:g.186649417G>C | GRCh37 |
| NC_000001.9:g.184916040G>C | NCBI36 |
| NG_028206.2:g.5143C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.6C>G MANE Select | ENSP00000356438.5:p.Leu2= | |
| ENST00000680451.1:c.6C>G | ENSP00000506242.1:p.Leu2= | |
| ENST00000681605.1:c.6C>G | ENSP00000504900.1:p.Leu2= | |
| ENST00000367468.9:c.6C>G | ENSP00000356438.5:p.Leu2= | |
| ENST00000490885.6:n.139C>G | ||
| ENST00000559627.1:c.6C>G | ENSP00000454130.1:p.Leu2= | |
| ENST00000559800.1:n.139C>G | ||
| NM_000963.3:c.6C>G | NP_000954.1:p.Leu2= | |
| NM_000963.4:c.6C>G MANE Select | NP_000954.1:p.Leu2= |