Linked Data
ClinVar Variation Id:
315978
dbSNP Id:
rs144199562
ExAC:
15:43038397 G / C
gnomAD v2:
15-43038397-G-C
gnomAD v3:
15-42746199-G-C
gnomAD v4:
15-42746199-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42746199G>C , CM000677.2:g.42746199G>C | GRCh38 |
| NC_000015.9:g.43038397G>C , CM000677.1:g.43038397G>C | GRCh37 |
| NC_000015.8:g.40825689G>C | NCBI36 |
| NG_012664.1:g.179611C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267890.11:c.3331C>G MANE Select | ENSP00000267890.6:p.Leu1111Val | |
| ENST00000267890.10:c.3331C>G | ENSP00000267890.6:p.Leu1111Val | |
| ENST00000622375.4:c.4546C>G | ENSP00000479984.1:p.Leu1516Val | |
| NM_173500.3:c.3331C>G | NP_775771.3:p.Leu1111Val | |
| XM_005254171.3:c.3349C>G | XP_005254228.1:p.Leu1117Val | |
| XM_005254173.3:c.3124C>G | XP_005254230.1:p.Leu1042Val | |
| XM_006720402.2:c.3316C>G | XP_006720465.1:p.Leu1106Val | |
| XM_006720403.2:c.3124C>G | XP_006720466.1:p.Leu1042Val | |
| XM_011521267.1:c.3124C>G | XP_011519569.1:p.Leu1042Val | |
| XM_011521268.1:c.3064C>G | XP_011519570.1:p.Leu1022Val | |
| XM_011521269.1:c.3052C>G | XP_011519571.1:p.Leu1018Val | |
| XM_005254171.5:c.3349C>G | XP_005254228.1:p.Leu1117Val | |
| XM_005254173.5:c.3124C>G | XP_005254230.1:p.Leu1042Val | |
| XM_006720402.4:c.3316C>G | XP_006720465.1:p.Leu1106Val | |
| XM_006720403.4:c.3124C>G | XP_006720466.1:p.Leu1042Val | |
| XM_017021950.2:c.3052C>G | XP_016877439.1:p.Leu1018Val | |
| XM_024449849.1:c.3331C>G | XP_024305617.1:p.Leu1111Val | |
| XM_024449850.1:c.3331C>G | XP_024305618.1:p.Leu1111Val | |
| XM_024449851.1:c.3124C>G | XP_024305619.1:p.Leu1042Val | |
| NM_173500.4:c.3331C>G MANE Select | NP_775771.3:p.Leu1111Val |