Linked Data
dbSNP Id:
rs766608701
ExAC:
14:21780613 T / G
gnomAD v2:
14-21780613-T-G
gnomAD v4:
14-21312454-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312454T>G , CM000676.2:g.21312454T>G | GRCh38 |
| NC_000014.8:g.21780613T>G , CM000676.1:g.21780613T>G | GRCh37 |
| NC_000014.7:g.20850453T>G | NCBI36 |
| NG_008933.1:g.29478T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1099T>G MANE Select | ENSP00000382895.2:p.Leu367Val | |
| ENST00000400017.6:c.1099T>G | ENSP00000382895.2:p.Leu367Val | |
| ENST00000556336.5:c.1018T>G | ENSP00000450445.1:p.Leu340Val | |
| ENST00000557771.5:c.1018T>G | ENSP00000451219.1:p.Leu340Val | |
| NM_020366.3:c.1099T>G | NP_065099.3:p.Leu367Val | |
| XM_011536983.1:c.1066T>G | XP_011535285.1:p.Leu356Val | |
| NM_020366.4:c.1099T>G MANE Select | NP_065099.3:p.Leu367Val |