Linked Data
dbSNP Id:
rs766608701
gnomAD v2:
14-21780613-T-C
gnomAD v3:
14-21312454-T-C
gnomAD v4:
14-21312454-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312454T>C , CM000676.2:g.21312454T>C | GRCh38 |
| NC_000014.8:g.21780613T>C , CM000676.1:g.21780613T>C | GRCh37 |
| NC_000014.7:g.20850453T>C | NCBI36 |
| NG_008933.1:g.29478T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1099T>C MANE Select | ENSP00000382895.2:p.Leu367= | |
| ENST00000400017.6:c.1099T>C | ENSP00000382895.2:p.Leu367= | |
| ENST00000556336.5:c.1018T>C | ENSP00000450445.1:p.Leu340= | |
| ENST00000557771.5:c.1018T>C | ENSP00000451219.1:p.Leu340= | |
| NM_020366.3:c.1099T>C | NP_065099.3:p.Leu367= | |
| XM_011536983.1:c.1066T>C | XP_011535285.1:p.Leu356= | |
| NM_020366.4:c.1099T>C MANE Select | NP_065099.3:p.Leu367= |