Linked Data
ClinVar Variation Id:
403591
ClinVar RCV Id:
RCV000455513
dbSNP Id:
rs2272007
ExAC:
3:41996136 T / C
gnomAD v2:
3-41996136-T-C
gnomAD v3:
3-41954644-T-C
gnomAD v4:
3-41954644-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.41954644T>C , CM000665.2:g.41954644T>C | GRCh38 |
| NC_000003.11:g.41996136T>C , CM000665.1:g.41996136T>C | GRCh37 |
| NC_000003.10:g.41971140T>C | NCBI36 |
| NG_051047.1:g.13377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301831.9:c.116A>G MANE Select | ENSP00000301831.4:p.Lys39Arg | |
| ENST00000301831.8:c.116A>G | ENSP00000301831.4:p.Lys39Arg | |
| ENST00000414606.1:c.116A>G | ENSP00000399382.1:p.Lys39Arg | |
| ENST00000420927.5:c.116A>G | ENSP00000412187.1:p.Lys39Arg | |
| ENST00000431379.5:c.116A>G | ENSP00000391849.1:p.Lys39Arg | |
| ENST00000453224.5:c.116A>G | ENSP00000401414.1:p.Lys39Arg | |
| ENST00000459802.5:n.62+7372A>G | ||
| ENST00000460978.1:n.204A>G | ||
| ENST00000497684.1:n.155A>G | ||
| NM_017886.2:c.116A>G | NP_060356.2:p.Lys39Arg | |
| XM_005265261.3:c.116A>G | XP_005265318.1:p.Lys39Arg | |
| XM_006713215.2:c.-152A>G | XP_006713278.1:n.-152A>G | |
| XM_011533872.1:c.116A>G | XP_011532174.1:p.Lys39Arg | |
| XM_011533873.1:c.116A>G | XP_011532175.1:p.Lys39Arg | |
| XM_011533874.1:c.116A>G | XP_011532176.1:p.Lys39Arg | |
| XM_011533875.1:c.116A>G | XP_011532177.1:p.Lys39Arg | |
| XM_011533876.1:c.116A>G | XP_011532178.1:p.Lys39Arg | |
| XM_011533878.1:c.116A>G | XP_011532180.1:p.Lys39Arg | |
| XR_427279.2:n.1033A>G | ||
| NM_001322500.1:c.116A>G | NP_001309429.1:p.Lys39Arg | |
| NM_001322501.1:c.-715A>G | NP_001309430.1:n.-715A>G | |
| NM_017886.3:c.116A>G | NP_060356.2:p.Lys39Arg | |
| NR_136342.1:n.589A>G | ||
| NM_017886.4:c.116A>G MANE Select | NP_060356.2:p.Lys39Arg | |
| NM_001322500.2:c.116A>G | NP_001309429.1:p.Lys39Arg | |
| NM_001322501.2:c.-715A>G | NP_001309430.1:n.-715A>G | |
| NR_136342.2:n.252A>G |