Linked Data
ClinVar Variation Id:
214570
dbSNP Id:
rs141790396
ExAC:
5:145493864 T / C
gnomAD v2:
5-145493864-T-C
gnomAD v3:
5-146114301-T-C
gnomAD v4:
5-146114301-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146114301T>C , CM000667.2:g.146114301T>C | GRCh38 |
| NC_000005.9:g.145493864T>C , CM000667.1:g.145493864T>C | GRCh37 |
| NC_000005.8:g.145474057T>C | NCBI36 |
| NG_042294.1:g.73431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.3336A>G MANE Select | ENSP00000377954.2:p.Lys1112= | |
| ENST00000504323.6:n.3766A>G | ||
| ENST00000506231.6:n.6218A>G | ||
| ENST00000674158.1:c.2955A>G | ENSP00000501474.1:p.Lys985= | |
| ENST00000674170.1:c.*1774A>G | ENSP00000501381.1:n.*1774A>G | |
| ENST00000674174.1:c.3174A>G | ENSP00000501434.1:p.Lys1058= | |
| ENST00000674181.1:c.1583A>G | ||
| ENST00000674191.1:c.2880A>G | ENSP00000501478.1:p.Lys960= | |
| ENST00000674218.1:n.6123A>G | ||
| ENST00000674270.1:c.3198A>G | ENSP00000501365.1:p.Lys1066= | |
| ENST00000674277.1:c.3171A>G | ENSP00000501510.1:p.Lys1057= | |
| ENST00000674290.1:c.3300A>G | ENSP00000501435.1:p.Lys1100= | |
| ENST00000674309.1:c.*692A>G | ENSP00000501400.1:n.*692A>G | |
| ENST00000674310.1:c.*63A>G | ENSP00000501486.1:n.*63A>G | |
| ENST00000674383.1:n.5989A>G | ||
| ENST00000674398.1:c.3333A>G | ENSP00000501476.1:p.Lys1111= | |
| ENST00000674447.1:c.3255A>G | ENSP00000501376.1:p.Lys1085= | |
| ENST00000674467.1:c.*1258A>G | ENSP00000501351.1:n.*1258A>G | |
| ENST00000674471.1:n.3604A>G | ||
| ENST00000674479.1:n.4373A>G | ||
| ENST00000274562.13:c.1263A>G | ENSP00000274562.10:p.Lys421= | |
| ENST00000394434.6:c.3336A>G | ENSP00000377954.2:p.Lys1112= | |
| ENST00000506231.5:n.3317A>G | ||
| ENST00000510191.5:c.3174A>G | ENSP00000426005.1:p.Lys1058= | |
| NM_020117.9:c.3336A>G | NP_064502.9:p.Lys1112= | |
| XM_011537655.1:c.3198A>G | XP_011535957.1:p.Lys1066= | |
| XM_011537656.1:c.3174A>G | XP_011535958.1:p.Lys1058= | |
| XM_011537657.1:c.3123A>G | XP_011535959.1:p.Lys1041= | |
| NM_001317964.1:c.3198A>G | NP_001304893.1:p.Lys1066= | |
| NM_001317965.1:c.3174A>G | NP_001304894.1:p.Lys1058= | |
| NM_016460.3:c.3255A>G | NP_057544.2:p.Lys1085= | |
| NM_020117.10:c.3336A>G | NP_064502.9:p.Lys1112= | |
| XM_011537656.3:c.3174A>G | XP_011535958.1:p.Lys1058= | |
| NM_020117.11:c.3336A>G MANE Select | NP_064502.9:p.Lys1112= | |
| NM_001317964.2:c.3198A>G | NP_001304893.1:p.Lys1066= | |
| NM_001317965.2:c.3174A>G | NP_001304894.1:p.Lys1058= | |
| NM_016460.4:c.3255A>G | NP_057544.2:p.Lys1085= |