Linked Data
ClinVar Variation Id:
541136
ClinVar RCV Id:
RCV000651343
dbSNP Id:
rs745440760
ExAC:
5:138643426 G / T
gnomAD v2:
5-138643426-G-T
gnomAD v3:
5-139307737-G-T
gnomAD v4:
5-139307737-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139307737G>T , CM000667.2:g.139307737G>T | GRCh38 |
| NC_000005.9:g.138643426G>T , CM000667.1:g.138643426G>T | GRCh37 |
| NC_000005.8:g.138671325G>T | NCBI36 |
| NG_012846.1:g.38635G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394805.8:c.322G>T MANE Select | ENSP00000378284.3:p.Ala108Ser | |
| ENST00000618441.5:c.322G>T | ENSP00000482895.1:p.Ala108Ser | |
| ENST00000361059.7:c.322G>T | ENSP00000354346.4:p.Ala108Ser | |
| ENST00000394800.6:c.322G>T | ENSP00000378279.2:p.Ala108Ser | |
| ENST00000394805.7:c.322G>T | ENSP00000378284.3:p.Ala108Ser | |
| ENST00000502499.5:c.-40-7960G>T | ENSP00000426030.1:n.-40-7960G>T | |
| ENST00000502929.5:c.322G>T | ENSP00000422319.1:p.Ala108Ser | |
| ENST00000503811.5:c.49-6938G>T | ENSP00000423587.1:n.49-6938G>T | |
| ENST00000504045.5:c.322G>T | ENSP00000423290.1:p.Ala108Ser | |
| ENST00000504203.5:c.-102-6938G>T | ENSP00000421218.1:n.-102-6938G>T | |
| ENST00000504311.5:c.-40-7960G>T | ENSP00000422700.1:n.-40-7960G>T | |
| ENST00000504643.5:n.47-6938G>T | ||
| ENST00000506147.5:c.13-6938G>T | ENSP00000423521.1:n.13-6938G>T | |
| ENST00000507860.1:n.32-6938G>T | ||
| ENST00000509644.5:c.-102-6938G>T | ENSP00000421666.1:n.-102-6938G>T | |
| ENST00000509918.5:n.64-6938G>T | ||
| ENST00000509990.5:c.322G>T | ENSP00000423533.1:p.Ala108Ser | |
| ENST00000510056.5:c.322G>T | ENSP00000426743.1:p.Ala108Ser | |
| ENST00000511249.5:c.-13-9870G>T | ENSP00000422649.1:n.-13-9870G>T | |
| ENST00000511978.5:n.57-6938G>T | ||
| ENST00000512107.5:c.-40-7960G>T | ENSP00000423695.1:n.-40-7960G>T | |
| ENST00000512876.5:c.-102-6938G>T | ENSP00000425150.1:n.-102-6938G>T | |
| ENST00000513121.1:n.91-6938G>T | ||
| ENST00000513678.5:c.-60-6938G>T | ENSP00000424646.1:n.-60-6938G>T | |
| ENST00000514528.5:c.121-6938G>T | ENSP00000427557.1:n.121-6938G>T | |
| ENST00000514694.5:c.322G>T | ||
| ENST00000618441.4:c.322G>T | ENSP00000482895.1:p.Ala108Ser | |
| ENST00000620916.2:c.113+209G>T | ENSP00000480093.1:n.113+209G>T | |
| NM_001194954.1:c.322G>T | NP_001181883.1:p.Ala108Ser | |
| NM_001194955.1:c.322G>T | NP_001181884.1:p.Ala108Ser | |
| NM_001194956.1:c.49-6938G>T | NP_001181885.1:n.49-6938G>T | |
| NM_001282278.1:c.-102-6938G>T | NP_001269207.1:n.-102-6938G>T | |
| NM_018834.5:c.322G>T | NP_061322.2:p.Ala108Ser | |
| NM_199189.2:c.322G>T | NP_954659.1:p.Ala108Ser | |
| NM_018834.6:c.322G>T MANE Select | NP_061322.2:p.Ala108Ser | |
| NM_001194954.2:c.322G>T | NP_001181883.1:p.Ala108Ser | |
| NM_001194955.2:c.322G>T | NP_001181884.1:p.Ala108Ser | |
| NM_001194956.2:c.49-6938G>T | NP_001181885.1:n.49-6938G>T | |
| NM_001282278.2:c.-102-6938G>T | NP_001269207.1:n.-102-6938G>T | |
| NM_199189.3:c.322G>T | NP_954659.1:p.Ala108Ser | |
| NM_001400441.1:c.322G>T | NP_001387370.1:p.Ala108Ser | |
| NM_001400442.1:c.322G>T | NP_001387371.1:p.Ala108Ser | |
| NM_001400443.1:c.322G>T | NP_001387372.1:p.Ala108Ser | |
| NM_001400444.1:c.322G>T | NP_001387373.1:p.Ala108Ser | |
| NM_001400445.1:c.322G>T | NP_001387374.1:p.Ala108Ser | |
| NM_001400447.1:c.322G>T | NP_001387376.1:p.Ala108Ser | |
| NM_001400448.1:c.322G>T | NP_001387377.1:p.Ala108Ser | |
| NM_001400450.1:c.322G>T | NP_001387379.1:p.Ala108Ser | |
| NM_001400451.1:c.322G>T | NP_001387380.1:p.Ala108Ser | |
| NM_001400452.1:c.322G>T | NP_001387381.1:p.Ala108Ser | |
| NM_001400453.1:c.322G>T | NP_001387382.1:p.Ala108Ser | |
| NM_001400454.1:c.322G>T | NP_001387383.1:p.Ala108Ser | |
| NM_001400455.1:c.322G>T | NP_001387384.1:p.Ala108Ser | |
| NM_001400456.1:c.322G>T | NP_001387385.1:p.Ala108Ser | |
| NM_001400457.1:c.322G>T | NP_001387386.1:p.Ala108Ser | |
| NM_001400458.1:c.322G>T | NP_001387387.1:p.Ala108Ser | |
| NM_001400459.1:c.52-6938G>T | NP_001387388.1:n.52-6938G>T | |
| NM_001400460.1:c.-102-6938G>T | NP_001387389.1:n.-102-6938G>T | |
| NM_001400461.1:c.13-6938G>T | NP_001387390.1:n.13-6938G>T | |
| NM_001400462.1:c.-40-7960G>T | NP_001387391.1:n.-40-7960G>T | |
| NM_001400463.1:c.-102-6938G>T | NP_001387392.1:n.-102-6938G>T | |
| NM_001400464.1:c.-102-6938G>T | NP_001387393.1:n.-102-6938G>T | |
| NM_001400465.1:c.-102-6938G>T | NP_001387394.1:n.-102-6938G>T | |
| NM_001400466.1:c.-102-6938G>T | NP_001387395.1:n.-102-6938G>T | |
| NM_001400467.1:c.-40-7960G>T | NP_001387396.1:n.-40-7960G>T |