Linked Data
ClinVar Variation Id:
214566
ClinVar RCV Id:
RCV000195633
dbSNP Id:
rs762913390
ExAC:
5:145506104 T / C
gnomAD v2:
5-145506104-T-C
gnomAD v3:
5-146126541-T-C
gnomAD v4:
5-146126541-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146126541T>C , CM000667.2:g.146126541T>C | GRCh38 |
| NC_000005.9:g.145506104T>C , CM000667.1:g.145506104T>C | GRCh37 |
| NC_000005.8:g.145486297T>C | NCBI36 |
| NG_042294.1:g.61191A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.2885A>G MANE Select | ENSP00000377954.2:p.Asn962Ser | |
| ENST00000504323.6:n.3315A>G | ||
| ENST00000506231.6:n.5767A>G | ||
| ENST00000674158.1:c.2504A>G | ENSP00000501474.1:p.Asn835Ser | |
| ENST00000674170.1:c.*1323A>G | ENSP00000501381.1:n.*1323A>G | |
| ENST00000674174.1:c.2723A>G | ENSP00000501434.1:p.Asn908Ser | |
| ENST00000674181.1:c.1132A>G | ||
| ENST00000674191.1:c.2429A>G | ENSP00000501478.1:p.Asn810Ser | |
| ENST00000674218.1:n.5672A>G | ||
| ENST00000674270.1:c.2747A>G | ENSP00000501365.1:p.Asn916Ser | |
| ENST00000674277.1:c.2720A>G | ENSP00000501510.1:p.Asn907Ser | |
| ENST00000674290.1:c.2849A>G | ENSP00000501435.1:p.Asn950Ser | |
| ENST00000674309.1:c.*241A>G | ENSP00000501400.1:n.*241A>G | |
| ENST00000674310.1:c.2885A>G | ENSP00000501486.1:p.Asn962Ser | |
| ENST00000674383.1:n.5538A>G | ||
| ENST00000674398.1:c.2882A>G | ENSP00000501476.1:p.Asn961Ser | |
| ENST00000674447.1:c.2804A>G | ENSP00000501376.1:p.Asn935Ser | |
| ENST00000674467.1:c.*807A>G | ENSP00000501351.1:n.*807A>G | |
| ENST00000674471.1:n.3153A>G | ||
| ENST00000674479.1:n.3922A>G | ||
| ENST00000274562.13:c.812A>G | ENSP00000274562.10:p.Asn271Ser | |
| ENST00000394434.6:c.2885A>G | ENSP00000377954.2:p.Asn962Ser | |
| ENST00000506231.5:n.2866A>G | ||
| ENST00000508709.1:n.419A>G | ||
| ENST00000510191.5:c.2723A>G | ENSP00000426005.1:p.Asn908Ser | |
| NM_020117.9:c.2885A>G | NP_064502.9:p.Asn962Ser | |
| XM_011537655.1:c.2747A>G | XP_011535957.1:p.Asn916Ser | |
| XM_011537656.1:c.2723A>G | XP_011535958.1:p.Asn908Ser | |
| XM_011537657.1:c.2672A>G | XP_011535959.1:p.Asn891Ser | |
| NM_001317964.1:c.2747A>G | NP_001304893.1:p.Asn916Ser | |
| NM_001317965.1:c.2723A>G | NP_001304894.1:p.Asn908Ser | |
| NM_016460.3:c.2804A>G | NP_057544.2:p.Asn935Ser | |
| NM_020117.10:c.2885A>G | NP_064502.9:p.Asn962Ser | |
| XM_011537656.3:c.2723A>G | XP_011535958.1:p.Asn908Ser | |
| NM_020117.11:c.2885A>G MANE Select | NP_064502.9:p.Asn962Ser | |
| NM_001317964.2:c.2747A>G | NP_001304893.1:p.Asn916Ser | |
| NM_001317965.2:c.2723A>G | NP_001304894.1:p.Asn908Ser | |
| NM_016460.4:c.2804A>G | NP_057544.2:p.Asn935Ser |