Linked Data
dbSNP Id:
rs772602967
ExAC:
19:51411961 G / C
gnomAD v2:
19-51411961-G-C
gnomAD v3:
19-50908705-G-C
gnomAD v4:
19-50908705-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908705G>C , CM000681.2:g.50908705G>C | GRCh38 |
| NC_000019.9:g.51411961G>C , CM000681.1:g.51411961G>C | GRCh37 |
| NC_000019.8:g.56103773G>C | NCBI36 |
| NG_012154.2:g.7034C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.349C>G MANE Select | ENSP00000326159.1:p.Leu117Val | |
| ENST00000324041.5:c.349C>G | ENSP00000326159.1:p.Leu117Val | |
| ENST00000431178.2:c.202C>G | ENSP00000399448.2:p.Leu68Val | |
| ENST00000593885.1:c.64C>G | ENSP00000469769.1:p.Leu22Val | |
| ENST00000596876.1:n.268C>G | ||
| ENST00000598305.5:c.64C>G | ENSP00000469963.1:p.Leu22Val | |
| ENST00000599865.5:n.202C>G | ||
| ENST00000602148.1:c.361C>G | ENSP00000472091.1:n.361C>G | |
| NM_001302961.1:c.64C>G | NP_001289890.1:p.Leu22Val | |
| NM_004917.4:c.349C>G | NP_004908.4:p.Leu117Val | |
| NR_126566.1:n.342C>G | ||
| XM_005259441.3:c.64C>G | XP_005259498.2:p.Leu22Val | |
| XM_011527545.1:c.349C>G | XP_011525847.1:p.Leu117Val | |
| XM_011527546.1:c.349C>G | XP_011525848.1:p.Leu117Val | |
| XM_011527547.1:c.202C>G | XP_011525849.1:p.Leu68Val | |
| XM_005259441.4:c.64C>G | XP_005259498.2:p.Leu22Val | |
| XM_011527545.3:c.349C>G | XP_011525847.1:p.Leu117Val | |
| XM_011527546.2:c.349C>G | XP_011525848.1:p.Leu117Val | |
| NM_001302961.2:c.64C>G | NP_001289890.1:p.Leu22Val | |
| NR_126566.2:n.342C>G | ||
| NM_004917.5:c.349C>G MANE Select | NP_004908.4:p.Leu117Val |